Linked Data
ClinVar Variation Id:
996206
ClinVar RCV Id:
RCV001290500
dbSNP Id:
rs75028796
gnomAD v2:
17-42456043-T-TA
gnomAD v3:
17-44378675-T-TA
gnomAD v4:
17-44378675-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44378676dup , CM000679.2:g.44378676dup | GRCh38 |
| NC_000017.10:g.42456044dup , CM000679.1:g.42456044dup | GRCh37 |
| NC_000017.9:g.39811570dup | NCBI36 |
| NG_008331.1:g.15830dup , LRG_479:g.15830dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.1913dup MANE Select | ENSP00000262407.5:p.Cys639MetfsTer22 | |
| ENST00000648408.1:c.1344dup | ||
| ENST00000262407.5:c.1913dup | ENSP00000262407.5:p.Cys639MetfsTer22 | |
| ENST00000592462.5:n.708dup | ||
| NM_000419.3:c.1913dup , LRG_479t1:c.1913dup | NP_000410.2:p.Cys639MetfsTer22 | |
| XM_011524749.1:c.1913dup | XP_011523051.1:p.Cys639MetfsTer22 | |
| XM_011524750.1:c.1913dup | XP_011523052.1:p.Cys639MetfsTer22 | |
| NM_000419.4:c.1913dup | NP_000410.2:p.Cys639MetfsTer22 | |
| NM_000419.5:c.1913dup MANE Select | NP_000410.2:p.Cys639MetfsTer22 |