Linked Data
ClinVar Variation Id:
1043355
dbSNP Id:
rs1401485925
gnomAD v2:
9-131708307-AG-A
gnomAD v4:
9-128946028-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128946031del , CM000671.2:g.128946031del | GRCh38 |
| NC_000009.11:g.131708310del , CM000671.1:g.131708310del | GRCh37 |
| NC_000009.10:g.130748131del | NCBI36 |
| NG_017009.1:g.6705del , LRG_744:g.6705del | |
| NG_033111.1:g.3339del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1275del MANE Select | ENSP00000361667.3:p.Cys426AlafsTer? | |
| ENST00000372586.3:c.1275del | ENSP00000361667.3:p.Cys426AlafsTer? | |
| ENST00000482796.1:c.39-3158del | ENSP00000417556.2:n.39-3158del | |
| NM_014908.3:c.1275del , LRG_744t1:c.1275del | NP_055723.1:p.Cys426AlafsTer? | |
| NM_014908.4:c.1275del MANE Select | NP_055723.1:p.Cys426AlafsTer? |