Linked Data
ClinVar Variation Id:
252147
ClinVar RCV Id:
RCV000237529
dbSNP Id:
rs879255098
PubMed:
PMID:23815734
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120235_11120267del , CM000681.2:g.11120235_11120267del | GRCh38 |
| NC_000019.9:g.11230911_11230943del , CM000681.1:g.11230911_11230943del | GRCh37 |
| NC_000019.8:g.11091911_11091943del | NCBI36 |
| NG_009060.1:g.35855_35887del , LRG_274:g.35855_35887del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2245+2_2245+34del | ENSP00000252444.6:n.2245+2_2245+34del | |
| ENST00000559340.2:c.*56+2_*56+34del | ENSP00000453696.2:n.*56+2_*56+34del | |
| ENST00000560467.2:c.1867+2_1867+34del | ENSP00000453513.2:n.1867+2_1867+34del | |
| ENST00000558518.6:c.1987+2_1987+34del MANE Select | ENSP00000454071.1:n.1987+2_1987+34del | |
| ENST00000252444.9:c.2241+2_2241+34del | ||
| ENST00000455727.6:c.1483+2_1483+34del | ENSP00000397829.2:n.1483+2_1483+34del | |
| ENST00000535915.5:c.1864+2_1864+34del | ENSP00000440520.1:n.1864+2_1864+34del | |
| ENST00000545707.5:c.1606+2_1606+34del | ENSP00000437639.1:n.1606+2_1606+34del | |
| ENST00000557933.5:c.1987+2_1987+34del | ENSP00000453557.1:n.1987+2_1987+34del | |
| ENST00000558013.5:c.1987+2_1987+34del | ENSP00000453346.1:n.1987+2_1987+34del | |
| ENST00000558518.5:c.1987+2_1987+34del | ENSP00000454071.1:n.1987+2_1987+34del | |
| ENST00000559340.1:c.568+2_568+34del | ||
| NM_000527.4:c.1987+2_1987+34del , LRG_274t1:c.1987+2_1987+34del | NP_000518.1:n.1987+2_1987+34del | |
| NM_001195798.1:c.1987+2_1987+34del | NP_001182727.1:n.1987+2_1987+34del | |
| NM_001195799.1:c.1864+2_1864+34del | NP_001182728.1:n.1864+2_1864+34del | |
| NM_001195800.1:c.1483+2_1483+34del | NP_001182729.1:n.1483+2_1483+34del | |
| NM_001195803.1:c.1606+2_1606+34del | NP_001182732.1:n.1606+2_1606+34del | |
| XM_011528010.1:c.1987+2_1987+34del | XP_011526312.1:n.1987+2_1987+34del | |
| XM_011528011.1:c.1606+2_1606+34del | XP_011526313.1:n.1606+2_1606+34del | |
| XR_244074.2:n.1997+2_1997+34del | ||
| XM_011528010.2:c.1987+2_1987+34del | XP_011526312.1:n.1987+2_1987+34del | |
| XR_001753685.2:n.2104+2_2104+34del | ||
| XR_001753686.2:n.1964+2_1964+34del | ||
| NM_000527.5:c.1987+2_1987+34del MANE Select | NP_000518.1:n.1987+2_1987+34del | |
| NM_001195798.2:c.1987+2_1987+34del | NP_001182727.1:n.1987+2_1987+34del | |
| NM_001195799.2:c.1864+2_1864+34del | NP_001182728.1:n.1864+2_1864+34del | |
| NM_001195800.2:c.1483+2_1483+34del | NP_001182729.1:n.1483+2_1483+34del | |
| NM_001195803.2:c.1606+2_1606+34del | NP_001182732.1:n.1606+2_1606+34del |