Linked Data
ClinVar Variation Id:
251390
ClinVar RCV Id:
RCV000237995
dbSNP Id:
rs879254639
gnomAD v4:
19-11105584-TGAC-T
PubMed:
PMID:20145306
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105587_11105589del , CM000681.2:g.11105587_11105589del | GRCh38 |
| NC_000019.9:g.11216263_11216265del , CM000681.1:g.11216263_11216265del | GRCh37 |
| NC_000019.8:g.11077263_11077265del | NCBI36 |
| NG_009060.1:g.21207_21209del , LRG_274:g.21207_21209del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.939_941del | ENSP00000252444.6:p.Asp313del | |
| ENST00000559340.2:c.681_683del | ENSP00000453696.2:p.Asp227del | |
| ENST00000560467.2:c.681_683del | ENSP00000453513.2:p.Asp227del | |
| ENST00000558518.6:c.681_683del MANE Select | ENSP00000454071.1:p.Asp227del | |
| ENST00000252444.9:c.935_937del | ||
| ENST00000455727.6:c.314-1805_314-1803del | ENSP00000397829.2:n.314-1805_314-1803del | |
| ENST00000535915.5:c.558_560del | ENSP00000440520.1:p.Asp186del | |
| ENST00000545707.5:c.314-978_314-976del | ENSP00000437639.1:n.314-978_314-976del | |
| ENST00000557933.5:c.681_683del | ENSP00000453557.1:p.Asp227del | |
| ENST00000558013.5:c.681_683del | ENSP00000453346.1:p.Asp227del | |
| ENST00000558518.5:c.681_683del | ENSP00000454071.1:p.Asp227del | |
| ENST00000560467.1:c.281_283del | ||
| NM_000527.4:c.681_683del , LRG_274t1:c.681_683del | NP_000518.1:p.Asp227del | |
| NM_001195798.1:c.681_683del | NP_001182727.1:p.Asp227del | |
| NM_001195799.1:c.558_560del | NP_001182728.1:p.Asp186del | |
| NM_001195800.1:c.314-1805_314-1803del | NP_001182729.1:n.314-1805_314-1803del | |
| NM_001195803.1:c.314-978_314-976del | NP_001182732.1:n.314-978_314-976del | |
| XM_011528010.1:c.681_683del | XP_011526312.1:p.Asp227del | |
| XM_011528011.1:c.314-978_314-976del | XP_011526313.1:n.314-978_314-976del | |
| XR_244074.2:n.831_833del | ||
| XM_011528010.2:c.681_683del | XP_011526312.1:p.Asp227del | |
| XR_001753685.2:n.798_800del | ||
| XR_001753686.2:n.798_800del | ||
| NM_000527.5:c.681_683del MANE Select | NP_000518.1:p.Asp227del | |
| NM_001195798.2:c.681_683del | NP_001182727.1:p.Asp227del | |
| NM_001195799.2:c.558_560del | NP_001182728.1:p.Asp186del | |
| NM_001195800.2:c.314-1805_314-1803del | NP_001182729.1:n.314-1805_314-1803del | |
| NM_001195803.2:c.314-978_314-976del | NP_001182732.1:n.314-978_314-976del |