Linked Data
ClinVar Variation Id:
251186
ClinVar RCV Id:
RCV000237299
dbSNP Id:
rs879254499
PubMed:
PMID:11668627
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105277_11105278insC , CM000681.2:g.11105277_11105278insC | GRCh38 |
| NC_000019.9:g.11215953_11215954insC , CM000681.1:g.11215953_11215954insC | GRCh37 |
| NC_000019.8:g.11076953_11076954insC | NCBI36 |
| NG_009060.1:g.20897_20898insC , LRG_274:g.20897_20898insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.629_630insC | ENSP00000252444.6:p.Gln211AlafsTer5 | |
| ENST00000559340.2:c.371_372insC | ENSP00000453696.2:p.Gln125AlafsTer5 | |
| ENST00000560467.2:c.371_372insC | ENSP00000453513.2:p.Gln125AlafsTer5 | |
| ENST00000558518.6:c.371_372insC MANE Select | ENSP00000454071.1:p.Gln125AlafsTer5 | |
| ENST00000252444.9:c.625_626insC | ||
| ENST00000455727.6:c.314-2115_314-2114insC | ENSP00000397829.2:n.314-2115_314-2114insC | |
| ENST00000535915.5:c.248_249insC | ENSP00000440520.1:p.Gln84AlafsTer5 | |
| ENST00000545707.5:c.314-1288_314-1287insC | ENSP00000437639.1:n.314-1288_314-1287insC | |
| ENST00000557933.5:c.371_372insC | ENSP00000453557.1:p.Gln125AlafsTer5 | |
| ENST00000558013.5:c.371_372insC | ENSP00000453346.1:p.Gln125AlafsTer5 | |
| ENST00000558518.5:c.371_372insC | ENSP00000454071.1:p.Gln125AlafsTer5 | |
| NM_000527.4:c.371_372insC , LRG_274t1:c.371_372insC | NP_000518.1:p.Gln125AlafsTer5 | |
| NM_001195798.1:c.371_372insC | NP_001182727.1:p.Gln125AlafsTer5 | |
| NM_001195799.1:c.248_249insC | NP_001182728.1:p.Gln84AlafsTer5 | |
| NM_001195800.1:c.314-2115_314-2114insC | NP_001182729.1:n.314-2115_314-2114insC | |
| NM_001195803.1:c.314-1288_314-1287insC | NP_001182732.1:n.314-1288_314-1287insC | |
| XM_011528010.1:c.371_372insC | XP_011526312.1:p.Gln125AlafsTer5 | |
| XM_011528011.1:c.314-1288_314-1287insC | XP_011526313.1:n.314-1288_314-1287insC | |
| XR_244074.2:n.521_522insC | ||
| XM_011528010.2:c.371_372insC | XP_011526312.1:p.Gln125AlafsTer5 | |
| XR_001753685.2:n.488_489insC | ||
| XR_001753686.2:n.488_489insC | ||
| NM_000527.5:c.371_372insC MANE Select | NP_000518.1:p.Gln125AlafsTer5 | |
| NM_001195798.2:c.371_372insC | NP_001182727.1:p.Gln125AlafsTer5 | |
| NM_001195799.2:c.248_249insC | NP_001182728.1:p.Gln84AlafsTer5 | |
| NM_001195800.2:c.314-2115_314-2114insC | NP_001182729.1:n.314-2115_314-2114insC | |
| NM_001195803.2:c.314-1288_314-1287insC | NP_001182732.1:n.314-1288_314-1287insC |