Linked Data
ClinVar Variation Id:
695019
dbSNP Id:
rs1384688313
gnomAD v2:
19-1401330-TA-T
gnomAD v4:
19-1401331-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401332del , CM000681.2:g.1401332del | GRCh38 |
| NC_000019.9:g.1401331del , CM000681.1:g.1401331del | GRCh37 |
| NC_000019.8:g.1352331del | NCBI36 |
| NG_009785.1:g.5222del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.145del MANE Select | ENSP00000252288.1:p.Tyr49IlefsTer? | |
| ENST00000447102.8:c.145del | ENSP00000403536.2:p.Tyr49IlefsTer? | |
| ENST00000640762.1:c.112+33del | ENSP00000492031.1:n.112+33del | |
| ENST00000252288.6:c.145del | ENSP00000252288.1:p.Tyr49IlefsTer? | |
| ENST00000447102.7:c.145del | ENSP00000403536.2:p.Tyr49IlefsTer? | |
| NM_000156.5:c.145del | NP_000147.1:p.Tyr49IlefsTer? | |
| NM_138924.2:c.145del | NP_620279.1:p.Tyr49IlefsTer? | |
| NM_000156.6:c.145del MANE Select | NP_000147.1:p.Tyr49IlefsTer? | |
| NM_138924.3:c.145del | NP_620279.1:p.Tyr49IlefsTer? |