Linked Data
ClinVar Variation Id:
2894871
ClinVar RCV Id:
RCV003726030
dbSNP Id:
rs1190349163
gnomAD v2:
13-20763086-TAACAC-T
gnomAD v4:
13-20188947-TAACAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20188950_20188954del , CM000675.2:g.20188950_20188954del | GRCh38 |
| NC_000013.10:g.20763089_20763093del , CM000675.1:g.20763089_20763093del | GRCh37 |
| NC_000013.9:g.19661089_19661093del | NCBI36 |
| NG_008358.1:g.9024_9028del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.630_634del | ENSP00000372295.1:p.Cys211PhefsTer4 | |
| ENST00000382848.5:c.630_634del MANE Select | ENSP00000372299.4:p.Cys211PhefsTer4 | |
| ENST00000382844.1:c.630_634del | ENSP00000372295.1:p.Cys211PhefsTer4 | |
| ENST00000382848.4:c.630_634del | ENSP00000372299.4:p.Cys211PhefsTer4 | |
| NM_004004.5:c.630_634del | NP_003995.2:p.Cys211PhefsTer4 | |
| XM_011535049.1:c.630_634del | XP_011533351.1:p.Cys211PhefsTer4 | |
| XM_011535049.2:c.630_634del | XP_011533351.1:p.Cys211PhefsTer4 | |
| NM_004004.6:c.630_634del MANE Select | NP_003995.2:p.Cys211PhefsTer4 |