Linked Data
dbSNP Id:
rs1261545918
gnomAD v2:
20-57474978-CAT-C
gnomAD v3:
20-58899923-CAT-C
gnomAD v4:
20-58899923-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58899924_58899925del , CM000682.2:g.58899924_58899925del | GRCh38 |
| NC_000020.10:g.57474979_57474980del , CM000682.1:g.57474979_57474980del | GRCh37 |
| NC_000020.9:g.56908374_56908375del | NCBI36 |
| NG_016194.1:g.65185_65186del | |
| NG_016194.2:g.65185_65186del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2142-3607_2142-3606del | ENSP00000265621.6:n.2142-3607_2142-3606del | |
| ENST00000419558.7:c.*116-3607_*116-3606del | ENSP00000416234.2:n.*116-3607_*116-3606del | |
| ENST00000423897.7:c.2187-25_2187-24del | ENSP00000412356.2:n.2187-25_2187-24del | |
| ENST00000453292.7:c.854-3604_854-3603del | ENSP00000392000.2:n.854-3604_854-3603del | |
| ENST00000462499.6:c.36-3604_36-3603del | ENSP00000499758.2:n.36-3604_36-3603del | |
| ENST00000464624.7:c.*99+939_*99+940del | ENSP00000499607.2:n.*99+939_*99+940del | |
| ENST00000464788.6:c.80+939_80+940del | ENSP00000499239.2:n.80+939_80+940del | |
| ENST00000467227.6:c.36-3604_36-3603del | ENSP00000499681.2:n.36-3604_36-3603del | |
| ENST00000467321.6:c.80+939_80+940del | ENSP00000499523.2:n.80+939_80+940del | |
| ENST00000468895.6:c.257+939_257+940del | ENSP00000499551.2:n.257+939_257+940del | |
| ENST00000469431.6:c.80+939_80+940del | ENSP00000499654.2:n.80+939_80+940del | |
| ENST00000470512.6:c.80+939_80+940del | ENSP00000499552.2:n.80+939_80+940del | |
| ENST00000472183.6:c.80+939_80+940del | ENSP00000499673.2:n.80+939_80+940del | |
| ENST00000476935.6:c.36-3607_36-3606del | ENSP00000499409.2:n.36-3607_36-3606del | |
| ENST00000478585.6:c.36-3604_36-3603del | ENSP00000499762.2:n.36-3604_36-3603del | |
| ENST00000480232.6:c.80+939_80+940del | ENSP00000499545.2:n.80+939_80+940del | |
| ENST00000481039.6:c.36-3604_36-3603del | ENSP00000499767.2:n.36-3604_36-3603del | |
| ENST00000482112.6:c.36-3607_36-3606del | ENSP00000499794.2:n.36-3607_36-3606del | |
| ENST00000483387.2:n.756-25_756-24del | ||
| ENST00000485673.6:c.36-3604_36-3603del | ENSP00000499334.2:n.36-3604_36-3603del | |
| ENST00000488546.6:c.36-3604_36-3603del | ENSP00000499332.2:n.36-3604_36-3603del | |
| ENST00000488652.6:c.80+939_80+940del | ENSP00000499435.2:n.80+939_80+940del | |
| ENST00000492907.6:c.36-3604_36-3603del | ENSP00000499443.2:n.36-3604_36-3603del | |
| ENST00000603546.2:c.80+939_80+940del | ENSP00000474802.2:n.80+939_80+940del | |
| ENST00000604005.6:c.80+939_80+940del | ENSP00000474219.2:n.80+939_80+940del | |
| ENST00000663479.2:c.80+939_80+940del | ENSP00000499353.2:n.80+939_80+940del | |
| ENST00000667293.2:c.80+939_80+940del | ENSP00000499293.2:n.80+939_80+940del | |
| ENST00000676826.2:c.2186+939_2186+940del | ENSP00000504675.2:n.2186+939_2186+940del | |
| ENST00000682134.1:n.2183+939_2183+940del | ||
| ENST00000682803.1:c.-71+762_-71+763del | ENSP00000507069.1:n.-71+762_-71+763del | |
| ENST00000682829.1:n.2586-3607_2586-3606del | ||
| ENST00000683015.1:c.1027+939_1027+940del | ENSP00000506815.1:n.1027+939_1027+940del | |
| ENST00000684284.1:n.2635+939_2635+940del | ||
| ENST00000306090.12:c.161+939_161+940del | ENSP00000304472.12:n.161+939_161+940del | |
| ENST00000338783.7:c.213-25_213-24del | ENSP00000345971.7:n.213-25_213-24del | |
| ENST00000349036.8:c.2142-3607_2142-3606del | ENSP00000265621.5:n.2142-3607_2142-3606del | |
| ENST00000354359.12:c.257+939_257+940del | ENSP00000346328.7:n.257+939_257+940del | |
| ENST00000371085.8:c.257+939_257+940del MANE Select | ENSP00000360126.3:n.257+939_257+940del | |
| ENST00000371100.9:c.2186+939_2186+940del MANE Plus Clinical | ENSP00000360141.3:n.2186+939_2186+940del | |
| ENST00000419558.6:c.*116-3607_*116-3606del | ENSP00000416234.2:n.*116-3607_*116-3606del | |
| ENST00000423897.6:c.2187-25_2187-24del | ENSP00000412356.2:n.2187-25_2187-24del | |
| ENST00000453292.6:c.*116-3604_*116-3603del | ENSP00000392000.2:n.*116-3604_*116-3603del | |
| ENST00000461152.6:c.983-3604_983-3603del | ENSP00000499274.1:n.983-3604_983-3603del | |
| ENST00000481768.6:c.*86-25_*86-24del | ENSP00000499644.2:n.*86-25_*86-24del | |
| ENST00000490374.6:n.341-25_341-24del | ||
| ENST00000657090.1:c.80+939_80+940del | ENSP00000499380.1:n.80+939_80+940del | |
| ENST00000663479.1:c.80+939_80+940del | ENSP00000499353.1:n.80+939_80+940del | |
| ENST00000667293.1:c.128+939_128+940del | ENSP00000499293.1:n.128+939_128+940del | |
| ENST00000676826.1:c.2186+939_2186+940del | ENSP00000504675.1:n.2186+939_2186+940del | |
| ENST00000265620.11:c.213-3607_213-3606del | ENSP00000265620.7:n.213-3607_213-3606del | |
| ENST00000306090.11:c.93+8105_93+8106del | ENSP00000304472.11:n.93+8105_93+8106del | |
| ENST00000313949.11:c.*160+939_*160+940del | ENSP00000323571.7:n.*160+939_*160+940del | |
| ENST00000338783.6:c.180-25_180-24del | ENSP00000345971.6:n.180-25_180-24del | |
| ENST00000349036.7:c.305+939_305+940del | ENSP00000265621.4:n.305+939_305+940del | |
| ENST00000354359.11:c.257+939_257+940del | ENSP00000346328.7:n.257+939_257+940del | |
| ENST00000371075.7:c.*160+939_*160+940del MANE Plus Clinical | ENSP00000360115.3:n.*160+939_*160+940del | |
| ENST00000371081.5:c.258-25_258-24del | ENSP00000360122.1:n.258-25_258-24del | |
| ENST00000371085.7:c.257+939_257+940del | ENSP00000360126.3:n.257+939_257+940del | |
| ENST00000371095.7:c.213-3604_213-3603del | ENSP00000360136.3:n.213-3604_213-3603del | |
| ENST00000371098.6:c.*161-25_*161-24del | ENSP00000360139.2:n.*161-25_*161-24del | |
| ENST00000371100.8:c.2186+939_2186+940del | ENSP00000360141.3:n.2186+939_2186+940del | |
| ENST00000371102.8:c.2142-3604_2142-3603del | ENSP00000360143.4:n.2142-3604_2142-3603del | |
| ENST00000419558.5:c.457-3607_457-3606del | ||
| ENST00000423897.5:c.275-25_275-24del | ||
| ENST00000450130.5:c.301-3607_301-3606del | ||
| ENST00000453292.5:c.617-3604_617-3603del | ENSP00000392000.1:n.617-3604_617-3603del | |
| ENST00000461152.5:n.221-3604_221-3603del | ||
| ENST00000462499.5:n.332-3604_332-3603del | ||
| ENST00000464624.6:n.2473+939_2473+940del | ||
| ENST00000464788.5:n.185+939_185+940del | ||
| ENST00000464960.5:n.525-25_525-24del | ||
| ENST00000467227.5:n.196-3604_196-3603del | ||
| ENST00000467321.5:n.272+939_272+940del | ||
| ENST00000468895.5:n.124-3604_124-3603del | ||
| ENST00000469431.5:n.374+939_374+940del | ||
| ENST00000470512.5:n.328+939_328+940del | ||
| ENST00000472183.5:n.509+939_509+940del | ||
| ENST00000476935.5:n.247-3607_247-3606del | ||
| ENST00000477931.5:n.372+939_372+940del | ||
| ENST00000478585.5:n.268-3604_268-3603del | ||
| ENST00000480232.5:n.273+939_273+940del | ||
| ENST00000480975.5:n.257-3607_257-3606del | ||
| ENST00000481039.5:n.174+939_174+940del | ||
| ENST00000481768.5:n.1442-25_1442-24del | ||
| ENST00000482112.5:n.332-3607_332-3606del | ||
| ENST00000483387.1:n.567+939_567+940del | ||
| ENST00000484504.5:n.201-25_201-24del | ||
| ENST00000485673.5:n.500-3604_500-3603del | ||
| ENST00000487862.5:n.489-3604_489-3603del | ||
| ENST00000488546.5:n.114-3604_114-3603del | ||
| ENST00000488652.5:n.347+939_347+940del | ||
| ENST00000490374.5:n.372+939_372+940del | ||
| ENST00000491348.5:n.607-25_607-24del | ||
| ENST00000492907.5:n.206-3604_206-3603del | ||
| ENST00000493744.5:n.351-25_351-24del | ||
| ENST00000496934.5:n.1546+939_1546+940del | ||
| ENST00000603546.1:c.80+939_80+940del | ENSP00000474802.1:n.80+939_80+940del | |
| ENST00000604005.5:c.80+939_80+940del | ENSP00000474219.1:n.80+939_80+940del | |
| NM_000516.4:c.257+939_257+940del | NP_000507.1:n.257+939_257+940del | |
| NM_000516.5:c.257+939_257+940del | NP_000507.1:n.257+939_257+940del | |
| NM_001077488.2:c.257+939_257+940del | NP_001070956.1:n.257+939_257+940del | |
| NM_001077488.3:c.257+939_257+940del | NP_001070956.1:n.257+939_257+940del | |
| NM_001077489.2:c.213-3607_213-3606del | NP_001070957.1:n.213-3607_213-3606del | |
| NM_001077489.3:c.213-3607_213-3606del | NP_001070957.1:n.213-3607_213-3606del | |
| NM_001077490.1:c.*118+939_*118+940del | NP_001070958.1:n.*118+939_*118+940del | |
| NM_001077490.2:c.*118+939_*118+940del | NP_001070958.1:n.*118+939_*118+940del | |
| NM_001309840.1:c.80+939_80+940del | NP_001296769.1:n.80+939_80+940del | |
| NM_001309842.1:c.258-25_258-24del | NP_001296771.1:n.258-25_258-24del | |
| NM_001309861.1:c.80+939_80+940del | NP_001296790.1:n.80+939_80+940del | |
| NM_001309883.1:c.*277-25_*277-24del | NP_001296812.1:n.*277-25_*277-24del | |
| NM_016592.2:c.*160+939_*160+940del | NP_057676.1:n.*160+939_*160+940del | |
| NM_016592.3:c.*160+939_*160+940del | NP_057676.1:n.*160+939_*160+940del | |
| NM_080425.2:c.2186+939_2186+940del | NP_536350.2:n.2186+939_2186+940del | |
| NM_080425.3:c.2186+939_2186+940del | NP_536350.2:n.2186+939_2186+940del | |
| NM_080426.2:c.213-3604_213-3603del | NP_536351.1:n.213-3604_213-3603del | |
| NM_080426.3:c.213-3604_213-3603del | NP_536351.1:n.213-3604_213-3603del | |
| NR_003259.1:c.-4294966949+939_-4294966949+940del | ||
| NR_132272.1:n.165-25_165-24del | ||
| NR_132273.1:n.525-25_525-24del | ||
| XM_017027812.2:c.2186+939_2186+940del | XP_016883301.1:n.2186+939_2186+940del | |
| XM_017027813.2:c.2142-3604_2142-3603del | XP_016883302.1:n.2142-3604_2142-3603del | |
| XM_017027814.2:c.2142-3607_2142-3606del | XP_016883303.1:n.2142-3607_2142-3606del | |
| XM_017027815.1:c.117-3607_117-3606del | XP_016883304.1:n.117-3607_117-3606del | |
| XM_017027816.1:c.-47-25_-47-24del | XP_016883305.1:n.-47-25_-47-24del | |
| XM_017027817.1:c.36-3607_36-3606del | XP_016883306.1:n.36-3607_36-3606del | |
| XM_017027818.2:c.36-3607_36-3606del | XP_016883307.1:n.36-3607_36-3606del | |
| XM_017027819.1:c.36-3607_36-3606del | XP_016883308.1:n.36-3607_36-3606del | |
| XM_017027820.1:c.-47-25_-47-24del | XP_016883309.1:n.-47-25_-47-24del | |
| XM_017027821.1:c.*160+939_*160+940del | XP_016883310.1:n.*160+939_*160+940del | |
| XM_017027822.1:c.*116-3607_*116-3606del | XP_016883311.1:n.*116-3607_*116-3606del | |
| XM_024451872.1:c.161+939_161+940del | XP_024307640.1:n.161+939_161+940del | |
| XM_024451873.1:c.80+939_80+940del | XP_024307641.1:n.80+939_80+940del | |
| XM_024451874.1:c.80+939_80+940del | XP_024307642.1:n.80+939_80+940del | |
| XM_024451875.1:c.80+939_80+940del | XP_024307643.1:n.80+939_80+940del | |
| XR_002958471.1:n.883-25_883-24del | ||
| NM_000516.6:c.257+939_257+940del | NP_000507.1:n.257+939_257+940del | |
| NM_001077488.4:c.257+939_257+940del | NP_001070956.1:n.257+939_257+940del | |
| NM_001077489.4:c.213-3607_213-3606del | NP_001070957.1:n.213-3607_213-3606del | |
| NM_001309840.2:c.80+939_80+940del | NP_001296769.1:n.80+939_80+940del | |
| NM_001309842.2:c.258-25_258-24del | NP_001296771.1:n.258-25_258-24del | |
| NM_001309861.2:c.80+939_80+940del | NP_001296790.1:n.80+939_80+940del | |
| NM_016592.4:c.*160+939_*160+940del | NP_057676.1:n.*160+939_*160+940del | |
| NM_080426.4:c.213-3604_213-3603del | NP_536351.1:n.213-3604_213-3603del | |
| NR_132272.2:n.166-25_166-24del | ||
| NM_000516.7:c.257+939_257+940del MANE Select | NP_000507.1:n.257+939_257+940del | |
| NM_001077488.5:c.257+939_257+940del | NP_001070956.1:n.257+939_257+940del | |
| NM_001077490.3:c.*118+939_*118+940del | NP_001070958.1:n.*118+939_*118+940del | |
| NM_016592.5:c.*160+939_*160+940del MANE Plus Clinical | NP_057676.1:n.*160+939_*160+940del | |
| NM_080425.4:c.2186+939_2186+940del MANE Plus Clinical | NP_536350.2:n.2186+939_2186+940del |