Linked Data
ClinVar Variation Id:
50018
ClinVar RCV Id:
RCV000043286
dbSNP Id:
rs137854308
MyVariant Identifiers:
chr16:g.2135291_2135299delinsCGTCGTGG (hg19)
chr16:g.2085290_2085298delinsCGTCGTGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2085290_2085298delinsCGTCGTGG , CM000678.2:g.2085290_2085298delinsCGTCGTGG | GRCh38 |
| NC_000016.9:g.2135291_2135299delinsCGTCGTGG , CM000678.1:g.2135291_2135299delinsCGTCGTGG | GRCh37 |
| NC_000016.8:g.2075292_2075300delinsCGTCGTGG | NCBI36 |
| NG_005895.1:g.40985_40993delinsCGTCGTGG , LRG_487:g.40985_40993delinsCGTCGTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2979_*2987delinsCGTCGTGG | ENSP00000455997.2:n.*2979_*2987delinsCGTCGTGG | |
| ENST00000642206.2:c.4477_4485delinsCGTCGTGG | ENSP00000495146.2:p.Lys1493ArgfsTer32 | |
| ENST00000642365.2:c.4627_4635delinsCGTCGTGG | ENSP00000495459.2:p.Lys1543ArgfsTer32 | |
| ENST00000644417.2:c.*5010_*5018delinsCGTCGTGG | ENSP00000493912.2:n.*5010_*5018delinsCGTCGTGG | |
| ENST00000646464.2:c.*7379_*7387delinsCGTCGTGG | ENSP00000496610.2:n.*7379_*7387delinsCGTCGTGG | |
| ENST00000219476.9:c.4630_4638delinsCGTCGTGG MANE Select | ENSP00000219476.3:p.Lys1544ArgfsTer32 | |
| ENST00000350773.9:c.4561_4569delinsCGTCGTGG | ENSP00000344383.4:p.Lys1521ArgfsTer32 | |
| ENST00000401874.7:c.4429_4437delinsCGTCGTGG | ENSP00000384468.2:p.Lys1477ArgfsTer32 | |
| ENST00000568454.6:c.4462_4470delinsCGTCGTGG | ENSP00000454487.1:p.Lys1488ArgfsTer32 | |
| ENST00000569110.2:c.853_861delinsCGTCGTGG | ||
| ENST00000569930.2:n.2512_2520delinsCGTCGTGG | ||
| ENST00000642365.1:c.3284_3292delinsCGTCGTGG | ||
| ENST00000642561.1:c.4501_4509delinsCGTCGTGG | ENSP00000495099.1:p.Lys1501ArgfsTer32 | |
| ENST00000642728.1:n.812_820delinsCGTCGTGG | ||
| ENST00000642791.1:n.227_235delinsCGTCGTGG | ||
| ENST00000642797.1:c.4432_4440delinsCGTCGTGG | ENSP00000493846.1:p.Lys1478ArgfsTer32 | |
| ENST00000642936.1:c.4498_4506delinsCGTCGTGG | ENSP00000494514.1:p.Lys1500ArgfsTer32 | |
| ENST00000643088.1:c.4423_4431delinsCGTCGTGG | ENSP00000494747.1:p.Lys1475ArgfsTer32 | |
| ENST00000643177.1:n.644_652delinsCGTCGTGG | ||
| ENST00000643426.1:n.2278_2286delinsCGTCGTGG | ||
| ENST00000643946.1:c.4555_4563delinsCGTCGTGG | ENSP00000495927.1:p.Lys1519ArgfsTer32 | |
| ENST00000644043.1:c.4501_4509delinsCGTCGTGG | ENSP00000496262.1:p.Lys1501ArgfsTer32 | |
| ENST00000644278.1:n.112_120delinsCGTCGTGG | ||
| ENST00000644329.1:c.4429_4437delinsCGTCGTGG | ENSP00000496611.1:p.Lys1477ArgfsTer32 | |
| ENST00000644335.1:c.4426_4434delinsCGTCGTGG | ENSP00000496317.1:p.Lys1476ArgfsTer32 | |
| ENST00000644399.1:c.4551_4559delinsCGTCGTGG | ||
| ENST00000645024.1:n.2714_2722delinsCGTCGTGG | ||
| ENST00000646388.1:c.4624_4632delinsCGTCGTGG | ENSP00000495921.1:p.Lys1542ArgfsTer32 | |
| ENST00000646634.1:n.3445_3453delinsCGTCGTGG | ||
| ENST00000646674.1:n.1882_1890delinsCGTCGTGG | ||
| ENST00000647042.1:n.1853_1861delinsCGTCGTGG | ||
| ENST00000647180.1:n.1743_1751delinsCGTCGTGG | ||
| ENST00000219476.7:c.4630_4638delinsCGTCGTGG | ENSP00000219476.3:p.Lys1544ArgfsTer32 | |
| ENST00000350773.8:c.4561_4569delinsCGTCGTGG | ENSP00000344383.4:p.Lys1521ArgfsTer32 | |
| ENST00000382538.10:c.4285_4293delinsCGTCGTGG | ENSP00000371978.6:p.Lys1429ArgfsTer32 | |
| ENST00000401874.6:c.4429_4437delinsCGTCGTGG | ENSP00000384468.2:p.Lys1477ArgfsTer32 | |
| ENST00000439117.6:c.*3797_*3805delinsCGTCGTGG | ENSP00000406980.2:n.*3797_*3805delinsCGTCGTGG | |
| ENST00000439673.6:c.4321_4329delinsCGTCGTGG | ENSP00000399232.2:p.Lys1441ArgfsTer32 | |
| ENST00000497886.5:n.2388_2396delinsCGTCGTGG | ||
| ENST00000568454.5:c.4462_4470delinsCGTCGTGG | ENSP00000454487.1:p.Lys1488ArgfsTer32 | |
| ENST00000569110.1:c.812_820delinsCGTCGTGG | ||
| ENST00000569930.1:n.1745_1753delinsCGTCGTGG | ||
| NM_000548.3:c.4630_4638delinsCGTCGTGG , LRG_487t1:c.4630_4638delinsCGTCGTGG | NP_000539.2:p.Lys1544ArgfsTer32 | |
| NM_001077183.1:c.4429_4437delinsCGTCGTGG | NP_001070651.1:p.Lys1477ArgfsTer32 | |
| NM_001114382.1:c.4561_4569delinsCGTCGTGG | NP_001107854.1:p.Lys1521ArgfsTer32 | |
| XM_005255529.3:c.4501_4509delinsCGTCGTGG | XP_005255586.2:p.Lys1501ArgfsTer32 | |
| XM_005255531.3:c.4432_4440delinsCGTCGTGG | XP_005255588.2:p.Lys1478ArgfsTer32 | |
| XM_011522636.1:c.4684_4692delinsCGTCGTGG | XP_011520938.1:p.Lys1562ArgfsTer32 | |
| XM_011522637.1:c.4681_4689delinsCGTCGTGG | XP_011520939.1:p.Lys1561ArgfsTer32 | |
| XM_011522638.1:c.4573_4581delinsCGTCGTGG | XP_011520940.1:p.Lys1525ArgfsTer32 | |
| XM_011522639.1:c.4555_4563delinsCGTCGTGG | XP_011520941.1:p.Lys1519ArgfsTer32 | |
| XM_011522640.1:c.4552_4560delinsCGTCGTGG | XP_011520942.1:p.Lys1518ArgfsTer32 | |
| XM_011522641.1:c.4321_4329delinsCGTCGTGG | XP_011520943.1:p.Lys1441ArgfsTer32 | |
| NM_000548.4:c.4630_4638delinsCGTCGTGG | NP_000539.2:p.Lys1544ArgfsTer32 | |
| NM_001077183.2:c.4429_4437delinsCGTCGTGG | NP_001070651.1:p.Lys1477ArgfsTer32 | |
| NM_001114382.2:c.4561_4569delinsCGTCGTGG | NP_001107854.1:p.Lys1521ArgfsTer32 | |
| NM_001318827.1:c.4321_4329delinsCGTCGTGG | NP_001305756.1:p.Lys1441ArgfsTer32 | |
| NM_001318829.1:c.4285_4293delinsCGTCGTGG | NP_001305758.1:p.Lys1429ArgfsTer32 | |
| NM_001318831.1:c.3898_3906delinsCGTCGTGG | NP_001305760.1:p.Lys1300ArgfsTer32 | |
| NM_001318832.1:c.4462_4470delinsCGTCGTGG | NP_001305761.1:p.Lys1488ArgfsTer32 | |
| NM_001363528.1:c.4432_4440delinsCGTCGTGG | NP_001350457.1:p.Lys1478ArgfsTer32 | |
| NM_021055.2:c.4501_4509delinsCGTCGTGG | NP_066399.2:p.Lys1501ArgfsTer32 | |
| XM_005255531.4:c.4432_4440delinsCGTCGTGG | XP_005255588.2:p.Lys1478ArgfsTer32 | |
| XM_011522636.2:c.4684_4692delinsCGTCGTGG | XP_011520938.1:p.Lys1562ArgfsTer32 | |
| XM_011522637.2:c.4681_4689delinsCGTCGTGG | XP_011520939.1:p.Lys1561ArgfsTer32 | |
| XM_011522638.2:c.4846_4854delinsCGTCGTGG | XP_011520940.2:p.Lys1616ArgfsTer32 | |
| XM_011522639.2:c.4555_4563delinsCGTCGTGG | XP_011520941.1:p.Lys1519ArgfsTer32 | |
| XM_011522640.2:c.4552_4560delinsCGTCGTGG | XP_011520942.1:p.Lys1518ArgfsTer32 | |
| XM_017023615.1:c.4627_4635delinsCGTCGTGG | XP_016879104.1:p.Lys1543ArgfsTer32 | |
| XM_017023616.1:c.4498_4506delinsCGTCGTGG | XP_016879105.1:p.Lys1500ArgfsTer32 | |
| XM_017023617.1:c.4594_4602delinsCGTCGTGG | XP_016879106.1:p.Lys1532ArgfsTer32 | |
| XM_017023618.1:c.3340_3348delinsCGTCGTGG | XP_016879107.1:p.Lys1114ArgfsTer32 | |
| XM_024450413.1:c.4429_4437delinsCGTCGTGG | XP_024306181.1:p.Lys1477ArgfsTer32 | |
| NM_000548.5:c.4630_4638delinsCGTCGTGG MANE Select | NP_000539.2:p.Lys1544ArgfsTer32 | |
| NM_001370404.1:c.4498_4506delinsCGTCGTGG | NP_001357333.1:p.Lys1500ArgfsTer32 | |
| NM_001370405.1:c.4501_4509delinsCGTCGTGG | NP_001357334.1:p.Lys1501ArgfsTer32 | |
| NM_001077183.3:c.4429_4437delinsCGTCGTGG | NP_001070651.1:p.Lys1477ArgfsTer32 | |
| NM_001114382.3:c.4561_4569delinsCGTCGTGG | NP_001107854.1:p.Lys1521ArgfsTer32 | |
| NM_001318827.2:c.4321_4329delinsCGTCGTGG | NP_001305756.1:p.Lys1441ArgfsTer32 | |
| NM_001318829.2:c.4285_4293delinsCGTCGTGG | NP_001305758.1:p.Lys1429ArgfsTer32 | |
| NM_001318831.2:c.3898_3906delinsCGTCGTGG | NP_001305760.1:p.Lys1300ArgfsTer32 | |
| NM_001318832.2:c.4462_4470delinsCGTCGTGG | NP_001305761.1:p.Lys1488ArgfsTer32 | |
| NM_001363528.2:c.4432_4440delinsCGTCGTGG | NP_001350457.1:p.Lys1478ArgfsTer32 | |
| NM_021055.3:c.4501_4509delinsCGTCGTGG | NP_066399.2:p.Lys1501ArgfsTer32 |