Linked Data
ClinVar Variation Id:
1879744
ClinVar RCV Id:
RCV002512389
dbSNP Id:
rs1248512170
gnomAD v3:
9-129818906-CAACTGT-C
gnomAD v4:
9-129818906-CAACTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818912_129818917del , CM000671.2:g.129818912_129818917del | GRCh38 |
| NC_000009.11:g.132581191_132581196del , CM000671.1:g.132581191_132581196del | GRCh37 |
| NC_000009.10:g.131621012_131621017del | NCBI36 |
| NG_008049.1:g.10251_10256del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.453_458del MANE Select | ENSP00000345719.4:p.Gln152_Leu153del | |
| ENST00000651202.1:c.549_554del | ENSP00000498222.1:p.Gln184_Leu185del | |
| ENST00000351698.4:c.453_458del | ENSP00000345719.4:p.Gln152_Leu153del | |
| ENST00000473604.2:n.563_568del | ||
| NM_000113.2:c.453_458del | NP_000104.1:p.Gln152_Leu153del | |
| XR_929731.1:n.613_618del | ||
| XR_929731.3:n.481_486del | ||
| NM_000113.3:c.453_458del MANE Select | NP_000104.1:p.Gln152_Leu153del |