Linked Data
ClinVar Variation Id:
1519699
ClinVar RCV Id:
RCV002024756
dbSNP Id:
rs752122426
ExAC:
4:6303014 GTCC / G
gnomAD v2:
4-6303014-GTCC-G
gnomAD v3:
4-6301287-GTCC-G
gnomAD v4:
4-6301287-GTCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301290_6301292del , CM000666.2:g.6301290_6301292del | GRCh38 |
| NC_000004.11:g.6303017_6303019del , CM000666.1:g.6303017_6303019del | GRCh37 |
| NC_000004.10:g.6353918_6353920del | NCBI36 |
| NG_011700.1:g.36441_36443del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1531_1533del | ENSP00000507852.1:p.Leu511del | |
| ENST00000683395.1:c.1472_1474del | ||
| ENST00000684087.1:c.1495_1497del | ENSP00000506978.1:p.Leu499del | |
| ENST00000506362.2:c.1246_1248del | ENSP00000424103.2:p.Leu416del | |
| ENST00000673642.1:c.1154_1156del | ENSP00000501242.1:p.Pro385del | |
| ENST00000673991.1:c.1531_1533del | ENSP00000501033.1:p.Leu511del | |
| ENST00000226760.5:c.1495_1497del MANE Select | ENSP00000226760.1:p.Leu499del | |
| ENST00000503569.5:c.1495_1497del | ENSP00000423337.1:p.Leu499del | |
| ENST00000507765.1:n.1680_1682del | ||
| NM_001145853.1:c.1495_1497del | NP_001139325.1:p.Leu499del | |
| NM_006005.3:c.1495_1497del MANE Select | NP_005996.2:p.Leu499del | |
| XM_017008586.1:c.1504_1506del | XP_016864075.1:p.Leu502del |