Linked Data
ClinVar Variation Id:
251295
dbSNP Id:
rs879254573
MyVariant Identifiers:
chr19:g.11216139del (hg19)
chr19:g.11216136del (hg19)
chr19:g.11105463del (hg38)
chr19:g.11105460del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105463del , CM000681.2:g.11105463del | GRCh38 |
| NC_000019.9:g.11216139del , CM000681.1:g.11216139del | GRCh37 |
| NC_000019.8:g.11077139del | NCBI36 |
| NG_009060.1:g.21083del , LRG_274:g.21083del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.815del | ENSP00000252444.6:p.Gly272ValfsTer20 | |
| ENST00000559340.2:c.557del | ENSP00000453696.2:p.Gly186ValfsTer20 | |
| ENST00000560467.2:c.557del | ENSP00000453513.2:p.Gly186ValfsTer20 | |
| ENST00000558518.6:c.557del MANE Select | ENSP00000454071.1:p.Gly186ValfsTer20 | |
| ENST00000252444.9:c.811del | ||
| ENST00000455727.6:c.314-1929del | ENSP00000397829.2:n.314-1929del | |
| ENST00000535915.5:c.434del | ENSP00000440520.1:p.Gly145ValfsTer20 | |
| ENST00000545707.5:c.314-1102del | ENSP00000437639.1:n.314-1102del | |
| ENST00000557933.5:c.557del | ENSP00000453557.1:p.Gly186ValfsTer20 | |
| ENST00000558013.5:c.557del | ENSP00000453346.1:p.Gly186ValfsTer20 | |
| ENST00000558518.5:c.557del | ENSP00000454071.1:p.Gly186ValfsTer20 | |
| ENST00000560467.1:c.157del | ||
| NM_000527.4:c.557del , LRG_274t1:c.557del | NP_000518.1:p.Gly186ValfsTer20 | |
| NM_001195798.1:c.557del | NP_001182727.1:p.Gly186ValfsTer20 | |
| NM_001195799.1:c.434del | NP_001182728.1:p.Gly145ValfsTer20 | |
| NM_001195800.1:c.314-1929del | NP_001182729.1:n.314-1929del | |
| NM_001195803.1:c.314-1102del | NP_001182732.1:n.314-1102del | |
| XM_011528010.1:c.557del | XP_011526312.1:p.Gly186ValfsTer20 | |
| XM_011528011.1:c.314-1102del | XP_011526313.1:n.314-1102del | |
| XR_244074.2:n.707del | ||
| XM_011528010.2:c.557del | XP_011526312.1:p.Gly186ValfsTer20 | |
| XR_001753685.2:n.674del | ||
| XR_001753686.2:n.674del | ||
| NM_000527.5:c.557del MANE Select | NP_000518.1:p.Gly186ValfsTer20 | |
| NM_001195798.2:c.557del | NP_001182727.1:p.Gly186ValfsTer20 | |
| NM_001195799.2:c.434del | NP_001182728.1:p.Gly145ValfsTer20 | |
| NM_001195800.2:c.314-1929del | NP_001182729.1:n.314-1929del | |
| NM_001195803.2:c.314-1102del | NP_001182732.1:n.314-1102del |