Linked Data
ClinVar Variation Id:
251677
ClinVar RCV Id:
RCV000238490
dbSNP Id:
rs1555804777
PubMed:
PMID:16542394
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11111576_11111577insC , CM000681.2:g.11111576_11111577insC | GRCh38 |
| NC_000019.9:g.11222252_11222253insC , CM000681.1:g.11222252_11222253insC | GRCh37 |
| NC_000019.8:g.11083252_11083253insC | NCBI36 |
| NG_009060.1:g.27196_27197insC , LRG_274:g.27196_27197insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1381_1382insC | ENSP00000252444.6:p.Tyr461SerfsTer6 | |
| ENST00000559340.2:c.1123_1124insC | ENSP00000453696.2:p.Tyr375SerfsTer6 | |
| ENST00000560467.2:c.1003_1004insC | ENSP00000453513.2:p.Tyr335SerfsTer6 | |
| ENST00000558518.6:c.1123_1124insC MANE Select | ENSP00000454071.1:p.Tyr375SerfsTer6 | |
| ENST00000252444.9:c.1377_1378insC | ||
| ENST00000455727.6:c.619_620insC | ENSP00000397829.2:p.Tyr207SerfsTer6 | |
| ENST00000535915.5:c.1000_1001insC | ENSP00000440520.1:p.Tyr334SerfsTer6 | |
| ENST00000545707.5:c.742_743insC | ENSP00000437639.1:p.Tyr248SerfsTer6 | |
| ENST00000557933.5:c.1123_1124insC | ENSP00000453557.1:p.Tyr375SerfsTer6 | |
| ENST00000558013.5:c.1123_1124insC | ENSP00000453346.1:p.Tyr375SerfsTer6 | |
| ENST00000558518.5:c.1123_1124insC | ENSP00000454071.1:p.Tyr375SerfsTer6 | |
| ENST00000560173.1:n.122_123insC | ||
| ENST00000560467.1:c.603_604insC | ||
| NM_000527.4:c.1123_1124insC , LRG_274t1:c.1123_1124insC | NP_000518.1:p.Tyr375SerfsTer6 | |
| NM_001195798.1:c.1123_1124insC | NP_001182727.1:p.Tyr375SerfsTer6 | |
| NM_001195799.1:c.1000_1001insC | NP_001182728.1:p.Tyr334SerfsTer6 | |
| NM_001195800.1:c.619_620insC | NP_001182729.1:p.Tyr207SerfsTer6 | |
| NM_001195803.1:c.742_743insC | NP_001182732.1:p.Tyr248SerfsTer6 | |
| XM_011528010.1:c.1123_1124insC | XP_011526312.1:p.Tyr375SerfsTer6 | |
| XM_011528011.1:c.742_743insC | XP_011526313.1:p.Tyr248SerfsTer6 | |
| XR_244074.2:n.1273_1274insC | ||
| XM_011528010.2:c.1123_1124insC | XP_011526312.1:p.Tyr375SerfsTer6 | |
| XR_001753685.2:n.1240_1241insC | ||
| XR_001753686.2:n.1240_1241insC | ||
| NM_000527.5:c.1123_1124insC MANE Select | NP_000518.1:p.Tyr375SerfsTer6 | |
| NM_001195798.2:c.1123_1124insC | NP_001182727.1:p.Tyr375SerfsTer6 | |
| NM_001195799.2:c.1000_1001insC | NP_001182728.1:p.Tyr334SerfsTer6 | |
| NM_001195800.2:c.619_620insC | NP_001182729.1:p.Tyr207SerfsTer6 | |
| NM_001195803.2:c.742_743insC | NP_001182732.1:p.Tyr248SerfsTer6 |