Linked Data
ClinVar Variation Id:
252318
ClinVar RCV Id:
RCV000237802
dbSNP Id:
rs879255194
PubMed:
PMID:15556094
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129515_11129523del , CM000681.2:g.11129515_11129523del | GRCh38 |
| NC_000019.9:g.11240191_11240199del , CM000681.1:g.11240191_11240199del | GRCh37 |
| NC_000019.8:g.11101191_11101199del | NCBI36 |
| NG_009060.1:g.45135_45143del , LRG_274:g.45135_45143del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2650_2658del | ENSP00000252444.6:p.Leu884_Val886del | |
| ENST00000559340.2:c.*461_*469del | ENSP00000453696.2:n.*461_*469del | |
| ENST00000560467.2:c.2272_2280del | ENSP00000453513.2:p.Leu758_Val760del | |
| ENST00000558518.6:c.2392_2400del MANE Select | ENSP00000454071.1:p.Leu798_Val800del | |
| ENST00000252444.9:c.2646_2654del | ||
| ENST00000455727.6:c.1888_1896del | ENSP00000397829.2:p.Leu630_Val632del | |
| ENST00000535915.5:c.2269_2277del | ENSP00000440520.1:p.Leu757_Val759del | |
| ENST00000545707.5:c.1858_1866del | ENSP00000437639.1:p.Leu620_Val622del | |
| ENST00000557933.5:c.2454_2462del | ENSP00000453557.1:p.Ser819_Ser821del | |
| ENST00000558013.5:c.2392_2400del | ENSP00000453346.1:p.Leu798_Val800del | |
| ENST00000558518.5:c.2392_2400del | ENSP00000454071.1:p.Leu798_Val800del | |
| ENST00000560628.1:n.108+1861_108+1869del | ||
| NM_000527.4:c.2392_2400del , LRG_274t1:c.2392_2400del | NP_000518.1:p.Leu798_Val800del | |
| NM_001195798.1:c.2392_2400del | NP_001182727.1:p.Leu798_Val800del | |
| NM_001195799.1:c.2269_2277del | NP_001182728.1:p.Leu757_Val759del | |
| NM_001195800.1:c.1888_1896del | NP_001182729.1:p.Leu630_Val632del | |
| NM_001195803.1:c.1858_1866del | NP_001182732.1:p.Leu620_Val622del | |
| XM_011528010.1:c.2314_2322del | XP_011526312.1:p.Leu772_Val774del | |
| XM_011528011.1:c.2011_2019del | XP_011526313.1:p.Leu671_Val673del | |
| XR_244074.2:n.2402_2410del | ||
| XM_011528010.2:c.2314_2322del | XP_011526312.1:p.Leu772_Val774del | |
| XR_001753685.2:n.2726_2734del | ||
| XR_001753686.2:n.2369_2377del | ||
| NM_000527.5:c.2392_2400del MANE Select | NP_000518.1:p.Leu798_Val800del | |
| NM_001195798.2:c.2392_2400del | NP_001182727.1:p.Leu798_Val800del | |
| NM_001195799.2:c.2269_2277del | NP_001182728.1:p.Leu757_Val759del | |
| NM_001195800.2:c.1888_1896del | NP_001182729.1:p.Leu630_Val632del | |
| NM_001195803.2:c.1858_1866del | NP_001182732.1:p.Leu620_Val622del |