Linked Data
ClinVar Variation Id:
252190
ClinVar RCV Id:
RCV000238095
dbSNP Id:
rs879255120
PubMed:
PMID:9654205
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120428_11120431del , CM000681.2:g.11120428_11120431del | GRCh38 |
| NC_000019.9:g.11231104_11231107del , CM000681.1:g.11231104_11231107del | GRCh37 |
| NC_000019.8:g.11092104_11092107del | NCBI36 |
| NG_009060.1:g.36048_36051del , LRG_274:g.36048_36051del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2304_2307del | ENSP00000252444.6:p.Ala770ArgfsTer24 | |
| ENST00000559340.2:c.*115_*118del | ENSP00000453696.2:n.*115_*118del | |
| ENST00000560467.2:c.1926_1929del | ENSP00000453513.2:p.Ala644ArgfsTer24 | |
| ENST00000558518.6:c.2046_2049del MANE Select | ENSP00000454071.1:p.Ala684ArgfsTer24 | |
| ENST00000252444.9:c.2300_2303del | ||
| ENST00000455727.6:c.1542_1545del | ENSP00000397829.2:p.Ala516ArgfsTer24 | |
| ENST00000535915.5:c.1923_1926del | ENSP00000440520.1:p.Ala643ArgfsTer24 | |
| ENST00000545707.5:c.1606+195_1606+198del | ENSP00000437639.1:n.1606+195_1606+198del | |
| ENST00000557933.5:c.2046_2049del | ENSP00000453557.1:p.Ala684ArgfsTer24 | |
| ENST00000558013.5:c.2046_2049del | ENSP00000453346.1:p.Ala684ArgfsTer24 | |
| ENST00000558518.5:c.2046_2049del | ENSP00000454071.1:p.Ala684ArgfsTer24 | |
| NM_000527.4:c.2046_2049del , LRG_274t1:c.2046_2049del | NP_000518.1:p.Ala684ArgfsTer24 | |
| NM_001195798.1:c.2046_2049del | NP_001182727.1:p.Ala684ArgfsTer24 | |
| NM_001195799.1:c.1923_1926del | NP_001182728.1:p.Ala643ArgfsTer24 | |
| NM_001195800.1:c.1542_1545del | NP_001182729.1:p.Ala516ArgfsTer24 | |
| NM_001195803.1:c.1606+195_1606+198del | NP_001182732.1:n.1606+195_1606+198del | |
| XM_011528010.1:c.2046_2049del | XP_011526312.1:p.Ala684ArgfsTer24 | |
| XM_011528011.1:c.1665_1668del | XP_011526313.1:p.Ala557ArgfsTer24 | |
| XR_244074.2:n.2056_2059del | ||
| XM_011528010.2:c.2046_2049del | XP_011526312.1:p.Ala684ArgfsTer24 | |
| XR_001753685.2:n.2163_2166del | ||
| XR_001753686.2:n.2023_2026del | ||
| NM_000527.5:c.2046_2049del MANE Select | NP_000518.1:p.Ala684ArgfsTer24 | |
| NM_001195798.2:c.2046_2049del | NP_001182727.1:p.Ala684ArgfsTer24 | |
| NM_001195799.2:c.1923_1926del | NP_001182728.1:p.Ala643ArgfsTer24 | |
| NM_001195800.2:c.1542_1545del | NP_001182729.1:p.Ala516ArgfsTer24 | |
| NM_001195803.2:c.1606+195_1606+198del | NP_001182732.1:n.1606+195_1606+198del |