Linked Data
ClinVar Variation Id:
251296
ClinVar RCV Id:
RCV000237431
dbSNP Id:
rs879254574
PubMed:
PMID:9452095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105464_11105465insG , CM000681.2:g.11105464_11105465insG | GRCh38 |
| NC_000019.9:g.11216140_11216141insG , CM000681.1:g.11216140_11216141insG | GRCh37 |
| NC_000019.8:g.11077140_11077141insG | NCBI36 |
| NG_009060.1:g.21084_21085insG , LRG_274:g.21084_21085insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.816_817insG | ENSP00000252444.6:p.Leu273AlafsTer9 | |
| ENST00000559340.2:c.558_559insG | ENSP00000453696.2:p.Leu187AlafsTer9 | |
| ENST00000560467.2:c.558_559insG | ENSP00000453513.2:p.Leu187AlafsTer9 | |
| ENST00000558518.6:c.558_559insG MANE Select | ENSP00000454071.1:p.Leu187AlafsTer9 | |
| ENST00000252444.9:c.812_813insG | ||
| ENST00000455727.6:c.314-1928_314-1927insG | ENSP00000397829.2:n.314-1928_314-1927insG | |
| ENST00000535915.5:c.435_436insG | ENSP00000440520.1:p.Leu146AlafsTer9 | |
| ENST00000545707.5:c.314-1101_314-1100insG | ENSP00000437639.1:n.314-1101_314-1100insG | |
| ENST00000557933.5:c.558_559insG | ENSP00000453557.1:p.Leu187AlafsTer9 | |
| ENST00000558013.5:c.558_559insG | ENSP00000453346.1:p.Leu187AlafsTer9 | |
| ENST00000558518.5:c.558_559insG | ENSP00000454071.1:p.Leu187AlafsTer9 | |
| ENST00000560467.1:c.158_159insG | ||
| NM_000527.4:c.558_559insG , LRG_274t1:c.558_559insG | NP_000518.1:p.Leu187AlafsTer9 | |
| NM_001195798.1:c.558_559insG | NP_001182727.1:p.Leu187AlafsTer9 | |
| NM_001195799.1:c.435_436insG | NP_001182728.1:p.Leu146AlafsTer9 | |
| NM_001195800.1:c.314-1928_314-1927insG | NP_001182729.1:n.314-1928_314-1927insG | |
| NM_001195803.1:c.314-1101_314-1100insG | NP_001182732.1:n.314-1101_314-1100insG | |
| XM_011528010.1:c.558_559insG | XP_011526312.1:p.Leu187AlafsTer9 | |
| XM_011528011.1:c.314-1101_314-1100insG | XP_011526313.1:n.314-1101_314-1100insG | |
| XR_244074.2:n.708_709insG | ||
| XM_011528010.2:c.558_559insG | XP_011526312.1:p.Leu187AlafsTer9 | |
| XR_001753685.2:n.675_676insG | ||
| XR_001753686.2:n.675_676insG | ||
| NM_000527.5:c.558_559insG MANE Select | NP_000518.1:p.Leu187AlafsTer9 | |
| NM_001195798.2:c.558_559insG | NP_001182727.1:p.Leu187AlafsTer9 | |
| NM_001195799.2:c.435_436insG | NP_001182728.1:p.Leu146AlafsTer9 | |
| NM_001195800.2:c.314-1928_314-1927insG | NP_001182729.1:n.314-1928_314-1927insG | |
| NM_001195803.2:c.314-1101_314-1100insG | NP_001182732.1:n.314-1101_314-1100insG |