Linked Data
ClinVar Variation Id:
1070219
ClinVar RCV Id:
RCV001382287
dbSNP Id:
rs2082632611
gnomAD v4:
19-1401332-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401337dup , CM000681.2:g.1401337dup | GRCh38 |
| NC_000019.9:g.1401336dup , CM000681.1:g.1401336dup | GRCh37 |
| NC_000019.8:g.1352336dup | NCBI36 |
| NG_009785.1:g.5221dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.144dup MANE Select | ENSP00000252288.1:p.Tyr49LeufsTer? | |
| ENST00000447102.8:c.144dup | ENSP00000403536.2:p.Tyr49LeufsTer? | |
| ENST00000640762.1:c.112+32dup | ENSP00000492031.1:n.112+32dup | |
| ENST00000252288.6:c.144dup | ENSP00000252288.1:p.Tyr49LeufsTer? | |
| ENST00000447102.7:c.144dup | ENSP00000403536.2:p.Tyr49LeufsTer? | |
| NM_000156.5:c.144dup | NP_000147.1:p.Tyr49LeufsTer? | |
| NM_138924.2:c.144dup | NP_620279.1:p.Tyr49LeufsTer? | |
| NM_000156.6:c.144dup MANE Select | NP_000147.1:p.Tyr49LeufsTer? | |
| NM_138924.3:c.144dup | NP_620279.1:p.Tyr49LeufsTer? |