Linked Data
dbSNP Id:
rs748863360
ExAC:
16:2135063 CTG / C
gnomAD v2:
16-2135063-CTG-C
gnomAD v4:
16-2085062-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2085067_2085068del , CM000678.2:g.2085067_2085068del | GRCh38 |
| NC_000016.9:g.2135068_2135069del , CM000678.1:g.2135068_2135069del | GRCh37 |
| NC_000016.8:g.2075069_2075070del | NCBI36 |
| NG_005895.1:g.40762_40763del , LRG_487:g.40762_40763del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2918+41_*2918+42del | ENSP00000455997.2:n.*2918+41_*2918+42del | |
| ENST00000642206.2:c.4416+41_4416+42del | ENSP00000495146.2:n.4416+41_4416+42del | |
| ENST00000642365.2:c.4566+41_4566+42del | ENSP00000495459.2:n.4566+41_4566+42del | |
| ENST00000644417.2:c.*4949+41_*4949+42del | ENSP00000493912.2:n.*4949+41_*4949+42del | |
| ENST00000646464.2:c.*7318+41_*7318+42del | ENSP00000496610.2:n.*7318+41_*7318+42del | |
| ENST00000219476.9:c.4569+41_4569+42del MANE Select | ENSP00000219476.3:n.4569+41_4569+42del | |
| ENST00000350773.9:c.4500+41_4500+42del | ENSP00000344383.4:n.4500+41_4500+42del | |
| ENST00000401874.7:c.4368+41_4368+42del | ENSP00000384468.2:n.4368+41_4368+42del | |
| ENST00000568454.6:c.4401+41_4401+42del | ENSP00000454487.1:n.4401+41_4401+42del | |
| ENST00000569110.2:c.792+41_792+42del | ||
| ENST00000569930.2:n.2451+41_2451+42del | ||
| ENST00000642365.1:c.3223+41_3223+42del | ||
| ENST00000642561.1:c.4440+41_4440+42del | ENSP00000495099.1:n.4440+41_4440+42del | |
| ENST00000642728.1:n.751+41_751+42del | ||
| ENST00000642797.1:c.4371+41_4371+42del | ENSP00000493846.1:n.4371+41_4371+42del | |
| ENST00000642936.1:c.4437+41_4437+42del | ENSP00000494514.1:n.4437+41_4437+42del | |
| ENST00000643088.1:c.4368+41_4368+42del | ENSP00000494747.1:n.4368+41_4368+42del | |
| ENST00000643177.1:n.583+41_583+42del | ||
| ENST00000643426.1:n.2217+41_2217+42del | ||
| ENST00000643946.1:c.4500+41_4500+42del | ENSP00000495927.1:n.4500+41_4500+42del | |
| ENST00000644043.1:c.4440+41_4440+42del | ENSP00000496262.1:n.4440+41_4440+42del | |
| ENST00000644329.1:c.4368+41_4368+42del | ENSP00000496611.1:n.4368+41_4368+42del | |
| ENST00000644335.1:c.4371+41_4371+42del | ENSP00000496317.1:n.4371+41_4371+42del | |
| ENST00000644399.1:c.4490+41_4490+42del | ||
| ENST00000645024.1:n.2653+41_2653+42del | ||
| ENST00000646388.1:c.4569+41_4569+42del | ENSP00000495921.1:n.4569+41_4569+42del | |
| ENST00000646634.1:n.3384+41_3384+42del | ||
| ENST00000646674.1:n.1821+41_1821+42del | ||
| ENST00000647042.1:n.1792+41_1792+42del | ||
| ENST00000647180.1:n.1682+41_1682+42del | ||
| ENST00000219476.7:c.4569+41_4569+42del | ENSP00000219476.3:n.4569+41_4569+42del | |
| ENST00000350773.8:c.4500+41_4500+42del | ENSP00000344383.4:n.4500+41_4500+42del | |
| ENST00000382538.10:c.4224+41_4224+42del | ENSP00000371978.6:n.4224+41_4224+42del | |
| ENST00000401874.6:c.4368+41_4368+42del | ENSP00000384468.2:n.4368+41_4368+42del | |
| ENST00000439117.6:c.*3736+41_*3736+42del | ENSP00000406980.2:n.*3736+41_*3736+42del | |
| ENST00000439673.6:c.4260+41_4260+42del | ENSP00000399232.2:n.4260+41_4260+42del | |
| ENST00000497886.5:n.2327+41_2327+42del | ||
| ENST00000568454.5:c.4401+41_4401+42del | ENSP00000454487.1:n.4401+41_4401+42del | |
| ENST00000569110.1:c.751+41_751+42del | ||
| ENST00000569930.1:n.1684+41_1684+42del | ||
| NM_000548.3:c.4569+41_4569+42del , LRG_487t1:c.4569+41_4569+42del | NP_000539.2:n.4569+41_4569+42del | |
| NM_001077183.1:c.4368+41_4368+42del | NP_001070651.1:n.4368+41_4368+42del | |
| NM_001114382.1:c.4500+41_4500+42del | NP_001107854.1:n.4500+41_4500+42del | |
| XM_005255529.3:c.4440+41_4440+42del | XP_005255586.2:n.4440+41_4440+42del | |
| XM_005255531.3:c.4371+41_4371+42del | XP_005255588.2:n.4371+41_4371+42del | |
| XM_011522636.1:c.4623+41_4623+42del | XP_011520938.1:n.4623+41_4623+42del | |
| XM_011522637.1:c.4620+41_4620+42del | XP_011520939.1:n.4620+41_4620+42del | |
| XM_011522638.1:c.4512+41_4512+42del | XP_011520940.1:n.4512+41_4512+42del | |
| XM_011522639.1:c.4494+41_4494+42del | XP_011520941.1:n.4494+41_4494+42del | |
| XM_011522640.1:c.4491+41_4491+42del | XP_011520942.1:n.4491+41_4491+42del | |
| XM_011522641.1:c.4260+41_4260+42del | XP_011520943.1:n.4260+41_4260+42del | |
| NM_000548.4:c.4569+41_4569+42del | NP_000539.2:n.4569+41_4569+42del | |
| NM_001077183.2:c.4368+41_4368+42del | NP_001070651.1:n.4368+41_4368+42del | |
| NM_001114382.2:c.4500+41_4500+42del | NP_001107854.1:n.4500+41_4500+42del | |
| NM_001318827.1:c.4260+41_4260+42del | NP_001305756.1:n.4260+41_4260+42del | |
| NM_001318829.1:c.4224+41_4224+42del | NP_001305758.1:n.4224+41_4224+42del | |
| NM_001318831.1:c.3837+41_3837+42del | NP_001305760.1:n.3837+41_3837+42del | |
| NM_001318832.1:c.4401+41_4401+42del | NP_001305761.1:n.4401+41_4401+42del | |
| NM_001363528.1:c.4371+41_4371+42del | NP_001350457.1:n.4371+41_4371+42del | |
| NM_021055.2:c.4440+41_4440+42del | NP_066399.2:n.4440+41_4440+42del | |
| XM_005255531.4:c.4371+41_4371+42del | XP_005255588.2:n.4371+41_4371+42del | |
| XM_011522636.2:c.4623+41_4623+42del | XP_011520938.1:n.4623+41_4623+42del | |
| XM_011522637.2:c.4620+41_4620+42del | XP_011520939.1:n.4620+41_4620+42del | |
| XM_011522638.2:c.4785+41_4785+42del | XP_011520940.2:n.4785+41_4785+42del | |
| XM_011522639.2:c.4494+41_4494+42del | XP_011520941.1:n.4494+41_4494+42del | |
| XM_011522640.2:c.4491+41_4491+42del | XP_011520942.1:n.4491+41_4491+42del | |
| XM_017023615.1:c.4566+41_4566+42del | XP_016879104.1:n.4566+41_4566+42del | |
| XM_017023616.1:c.4437+41_4437+42del | XP_016879105.1:n.4437+41_4437+42del | |
| XM_017023617.1:c.4533+41_4533+42del | XP_016879106.1:n.4533+41_4533+42del | |
| XM_017023618.1:c.3279+41_3279+42del | XP_016879107.1:n.3279+41_3279+42del | |
| XM_024450413.1:c.4368+41_4368+42del | XP_024306181.1:n.4368+41_4368+42del | |
| NM_000548.5:c.4569+41_4569+42del MANE Select | NP_000539.2:n.4569+41_4569+42del | |
| NM_001370404.1:c.4437+41_4437+42del | NP_001357333.1:n.4437+41_4437+42del | |
| NM_001370405.1:c.4440+41_4440+42del | NP_001357334.1:n.4440+41_4440+42del | |
| NM_001077183.3:c.4368+41_4368+42del | NP_001070651.1:n.4368+41_4368+42del | |
| NM_001114382.3:c.4500+41_4500+42del | NP_001107854.1:n.4500+41_4500+42del | |
| NM_001318827.2:c.4260+41_4260+42del | NP_001305756.1:n.4260+41_4260+42del | |
| NM_001318829.2:c.4224+41_4224+42del | NP_001305758.1:n.4224+41_4224+42del | |
| NM_001318831.2:c.3837+41_3837+42del | NP_001305760.1:n.3837+41_3837+42del | |
| NM_001318832.2:c.4401+41_4401+42del | NP_001305761.1:n.4401+41_4401+42del | |
| NM_001363528.2:c.4371+41_4371+42del | NP_001350457.1:n.4371+41_4371+42del | |
| NM_021055.3:c.4440+41_4440+42del | NP_066399.2:n.4440+41_4440+42del |