Linked Data
dbSNP Id:
rs1266160666
gnomAD v3:
9-72577868-CTTTATTTATA-C
gnomAD v4:
9-72577868-CTTTATTTATA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72577878_72577887del , CM000671.2:g.72577878_72577887del | GRCh38 |
| NC_000009.11:g.75192794_75192803del , CM000671.1:g.75192794_75192803del | GRCh37 |
| NC_000009.10:g.74382614_74382623del | NCBI36 |
| NG_008213.1:g.61078_61087del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.-427-24_-427-15del MANE Select | ENSP00000297784.6:n.-427-24_-427-15del | |
| ENST00000643676.1:n.307-38490_307-38481del | ||
| ENST00000645208.2:c.-451_-442del | ENSP00000494684.1:n.-451_-442del | |
| ENST00000650689.1:n.66-24_66-15del | ||
| ENST00000651183.1:c.-528-24_-528-15del | ENSP00000498723.1:n.-528-24_-528-15del | |
| ENST00000651743.1:n.116-24_116-15del | ||
| ENST00000297784.9:c.-427-24_-427-15del | ENSP00000297784.5:n.-427-24_-427-15del | |
| ENST00000497073.1:n.91_100del | ||
| NM_138691.2:c.-427-24_-427-15del | NP_619636.2:n.-427-24_-427-15del | |
| NM_138691.3:c.-427-24_-427-15del MANE Select | NP_619636.2:n.-427-24_-427-15del |