SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58891647_58891666delinsCGGCCCTCCCGGCCCGCGTG , CM000682.2:g.58891647_58891666delinsCGGCCCTCCCGGCCCGCGTG | GRCh38 |
| NC_000020.10:g.57466702_57466721delinsCGGCCCTCCCGGCCCGCGTG , CM000682.1:g.57466702_57466721delinsCGGCCCTCCCGGCCCGCGTG | GRCh37 |
| NC_000020.9:g.56900097_56900116delinsCGGCCCTCCCGGCCCGCGTG | NCBI36 |
| NG_016194.1:g.56908_56927delinsCGGCCCTCCCGGCCCGCGTG | |
| NG_016194.2:g.56908_56927delinsCGGCCCTCCCGGCCCGCGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000265621.6:n.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCG... | |
| ENST00000419558.7:c.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000416234.2:n.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000423897.7:c.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000412356.2:n.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCG... | |
| ENST00000453292.7:c.781-3965_781-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000392000.2:n.781-3965_781-3946delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000462499.6:c.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499758.2:n.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000464624.7:c.2160-3965_2160-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499607.2:n.2160-3965_2160-3946delinsCGGCCCTCCCGGCCCG... | |
| ENST00000464788.6:c.-39+2434_-39+2453delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499239.2:n.-39+2434_-39+2453delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000467227.6:c.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499681.2:n.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000467321.6:c.-39+2601_-39+2620delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499523.2:n.-39+2601_-39+2620delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000469431.6:c.-39+2241_-39+2260delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499654.2:n.-39+2241_-39+2260delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000470512.6:c.-39+2294_-39+2313delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499552.2:n.-39+2294_-39+2313delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000472183.6:c.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499673.2:n.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000478585.6:c.-39+2294_-39+2313delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499762.2:n.-39+2294_-39+2313delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000480232.6:c.-39+2098_-39+2117delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499545.2:n.-39+2098_-39+2117delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000481039.6:c.-39+2739_-39+2758delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499767.2:n.-39+2739_-39+2758delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000482112.6:c.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499794.2:n.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000485673.6:c.-39+2098_-39+2117delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499334.2:n.-39+2098_-39+2117delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000488546.6:c.-39+2829_-39+2848delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499332.2:n.-39+2829_-39+2848delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000604005.6:c.-39+2315_-39+2334delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000474219.2:n.-39+2315_-39+2334delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000663479.2:c.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499353.2:n.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000667293.2:c.-39+2743_-39+2762delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499293.2:n.-39+2743_-39+2762delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000676826.2:c.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000504675.2:n.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCG... | |
| ENST00000683015.1:c.909+858_909+877delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000506815.1:n.909+858_909+877delinsCGGCCCTCCCGGCCCGCGTG... | |
| ENST00000306090.12:c.44-3965_44-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000304472.12:n.44-3965_44-3946delinsCGGCCCTCCCGGCCCGCGT... | |
| ENST00000349036.8:c.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000265621.5:n.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCG... | |
| ENST00000354359.12:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000346328.7:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| ENST00000371085.8:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG MANE Select | ENSP00000360126.3:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| ENST00000371100.9:c.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG MANE Plus Clinical | ENSP00000360141.3:n.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCG... | |
| ENST00000419558.6:c.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000416234.2:n.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000423897.6:c.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000412356.2:n.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCG... | |
| ENST00000453292.6:c.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000392000.2:n.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000461152.6:c.909+858_909+877delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499274.1:n.909+858_909+877delinsCGGCCCTCCCGGCCCGCGTG... | |
| ENST00000481768.6:c.2227-3965_2227-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499644.2:n.2227-3965_2227-3946delinsCGGCCCTCCCGGCCCG... | |
| ENST00000490374.6:n.223-3965_223-3946delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000657090.1:c.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499380.1:n.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000663479.1:c.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499353.1:n.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000667293.1:c.11-3965_11-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000499293.1:n.11-3965_11-3946delinsCGGCCCTCCCGGCCCGCGTG... | |
| ENST00000676826.1:c.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000504675.1:n.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCG... | |
| ENST00000265620.11:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000265620.7:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| ENST00000313949.11:c.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000323571.7:n.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000349036.7:c.188-3965_188-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000265621.4:n.188-3965_188-3946delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000354359.11:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000346328.7:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| ENST00000371075.7:c.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG MANE Plus Clinical | ENSP00000360115.3:n.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000371085.7:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000360126.3:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| ENST00000371095.7:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000360136.3:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| ENST00000371098.6:c.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000360139.2:n.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000371100.8:c.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000360141.3:n.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCG... | |
| ENST00000371102.8:c.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000360143.4:n.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCG... | |
| ENST00000419558.5:c.384-3965_384-3946delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000423897.5:c.157-3965_157-3946delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000450130.5:c.228-3965_228-3946delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000453292.5:c.544-3965_544-3946delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000392000.1:n.544-3965_544-3946delinsCGGCCCTCCCGGCCCGCG... | |
| ENST00000461152.5:n.147+858_147+877delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000462499.5:n.259-3965_259-3946delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000464624.6:n.2137_2156delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000464788.5:n.67+2434_67+2453delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000464960.5:n.406+2829_406+2848delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000467227.5:n.123-3965_123-3946delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000467321.5:n.154+2601_154+2620delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000468895.5:n.50+2739_50+2758delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000469431.5:n.256+2241_256+2260delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000470512.5:n.210+2294_210+2313delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000472183.5:n.392-3965_392-3946delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000477931.5:n.254+2294_254+2313delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000478585.5:n.194+2294_194+2313delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000480232.5:n.155+2098_155+2117delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000480975.5:n.183+2294_183+2313delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000481039.5:n.56+2743_56+2762delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000481768.5:n.1324-3965_1324-3946delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000482112.5:n.259-3965_259-3946delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000484504.5:n.127+2294_127+2313delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000485673.5:n.426+2098_426+2117delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000488546.5:n.40+2829_40+2848delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000490374.5:n.255-3965_255-3946delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000491348.5:n.534-3965_534-3946delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000493744.5:n.233-3965_233-3946delinsCGGCCCTCCCGGCCCGCGTG | ||
| ENST00000604005.5:c.-39+2315_-39+2334delinsCGGCCCTCCCGGCCCGCGTG | ENSP00000474219.1:n.-39+2315_-39+2334delinsCGGCCCTCCCGGCCCGCG... | |
| NM_000516.4:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | NP_000507.1:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_000516.5:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | NP_000507.1:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001077488.2:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | NP_001070956.1:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001077488.3:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | NP_001070956.1:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001077489.2:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | NP_001070957.1:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001077489.3:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | NP_001070957.1:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001077490.1:c.*1-3965_*1-3946delinsCGGCCCTCCCGGCCCGCGTG | NP_001070958.1:n.*1-3965_*1-3946delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001077490.2:c.*1-3965_*1-3946delinsCGGCCCTCCCGGCCCGCGTG | NP_001070958.1:n.*1-3965_*1-3946delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001309840.1:c.-39+2294_-39+2313delinsCGGCCCTCCCGGCCCGCGTG | NP_001296769.1:n.-39+2294_-39+2313delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001309842.1:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | NP_001296771.1:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001309861.1:c.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCGTG | NP_001296790.1:n.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001309883.1:c.*159-3965_*159-3946delinsCGGCCCTCCCGGCCCGCGTG | NP_001296812.1:n.*159-3965_*159-3946delinsCGGCCCTCCCGGCCCGCGT... | |
| NM_016592.2:c.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG | NP_057676.1:n.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_016592.3:c.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG | NP_057676.1:n.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_080425.2:c.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG | NP_536350.2:n.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_080425.3:c.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG | NP_536350.2:n.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_080426.2:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | NP_536351.1:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_080426.3:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | NP_536351.1:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| NR_003259.1:c.-4294967067+2294_-4294967067+2313delinsCGGCCCTCCCGGCCCGCGTG | ||
| NR_132273.1:n.406+2829_406+2848delinsCGGCCCTCCCGGCCCGCGTG | ||
| XM_017027812.2:c.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG | XP_016883301.1:n.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGT... | |
| XM_017027813.2:c.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG | XP_016883302.1:n.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGT... | |
| XM_017027814.2:c.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG | XP_016883303.1:n.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGT... | |
| XM_017027815.1:c.44-3965_44-3946delinsCGGCCCTCCCGGCCCGCGTG | XP_016883304.1:n.44-3965_44-3946delinsCGGCCCTCCCGGCCCGCGTG | |
| XM_017027816.1:c.-384_-365delinsCGGCCCTCCCGGCCCGCGTG | XP_016883305.1:n.-384_-365delinsCGGCCCTCCCGGCCCGCGTG | |
| XM_017027817.1:c.-39+2294_-39+2313delinsCGGCCCTCCCGGCCCGCGTG | XP_016883306.1:n.-39+2294_-39+2313delinsCGGCCCTCCCGGCCCGCGTG | |
| XM_017027819.1:c.-39+2315_-39+2334delinsCGGCCCTCCCGGCCCGCGTG | XP_016883308.1:n.-39+2315_-39+2334delinsCGGCCCTCCCGGCCCGCGTG | |
| XM_017027821.1:c.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG | XP_016883310.1:n.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG | |
| XM_017027822.1:c.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG | XP_016883311.1:n.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG | |
| XM_024451872.1:c.44-3965_44-3946delinsCGGCCCTCCCGGCCCGCGTG | XP_024307640.1:n.44-3965_44-3946delinsCGGCCCTCCCGGCCCGCGTG | |
| XM_024451875.1:c.-39+2315_-39+2334delinsCGGCCCTCCCGGCCCGCGTG | XP_024307643.1:n.-39+2315_-39+2334delinsCGGCCCTCCCGGCCCGCGTG | |
| XR_002958471.1:n.546_565delinsCGGCCCTCCCGGCCCGCGTG | ||
| NM_000516.6:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | NP_000507.1:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001077488.4:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | NP_001070956.1:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001077489.4:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | NP_001070957.1:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001309840.2:c.-39+2294_-39+2313delinsCGGCCCTCCCGGCCCGCGTG | NP_001296769.1:n.-39+2294_-39+2313delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001309842.2:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | NP_001296771.1:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001309861.2:c.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCGTG | NP_001296790.1:n.-38-3965_-38-3946delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_016592.4:c.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG | NP_057676.1:n.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_080426.4:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | NP_536351.1:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_000516.7:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG MANE Select | NP_000507.1:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001077488.5:c.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | NP_001070956.1:n.-80_-61delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_001077490.3:c.*1-3965_*1-3946delinsCGGCCCTCCCGGCCCGCGTG | NP_001070958.1:n.*1-3965_*1-3946delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_016592.5:c.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG MANE Plus Clinical | NP_057676.1:n.*43-3965_*43-3946delinsCGGCCCTCCCGGCCCGCGTG | |
| NM_080425.4:c.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG MANE Plus Clinical | NP_536350.2:n.2069-3965_2069-3946delinsCGGCCCTCCCGGCCCGCGTG |