Linked Data
ClinVar Variation Id:
228405
dbSNP Id:
rs876657727
gnomAD v3:
9-72791895-GT-G
gnomAD v4:
9-72791895-GT-G
MyVariant Identifiers:
chr9:g.75406813del (hg19)
chr9:g.75406812del (hg19)
chr9:g.72791897del (hg38)
chr9:g.72791896del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72791897del , CM000671.2:g.72791897del | GRCh38 |
| NC_000009.11:g.75406813del , CM000671.1:g.75406813del | GRCh37 |
| NC_000009.10:g.74596633del | NCBI36 |
| NG_008213.1:g.275097del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1236del MANE Select | ENSP00000297784.6:p.Met413CysfsTer4 | |
| ENST00000644967.1:c.798del | ENSP00000496159.1:p.Met267CysfsTer4 | |
| ENST00000645053.1:c.798del | ENSP00000493838.1:p.Met267CysfsTer4 | |
| ENST00000645208.2:c.1236del | ENSP00000494684.1:p.Met413CysfsTer4 | |
| ENST00000645773.1:c.1110del | ENSP00000493698.1:p.Met371CysfsTer4 | |
| ENST00000645787.1:n.1276del | ||
| ENST00000646619.1:c.798del | ENSP00000493726.1:p.Met267CysfsTer4 | |
| ENST00000650689.1:n.1534del | ||
| ENST00000651183.1:c.798del | ENSP00000498723.1:p.Met267CysfsTer4 | |
| ENST00000297784.9:c.1236del | ENSP00000297784.5:p.Met413CysfsTer4 | |
| ENST00000340019.4:c.1236del | ENSP00000341433.3:p.Met413CysfsTer4 | |
| NM_138691.2:c.1236del | NP_619636.2:p.Met413CysfsTer4 | |
| XM_011518213.1:c.1824del | XP_011516515.1:p.Met609CysfsTer4 | |
| XM_017014256.1:c.1239del | XP_016869745.1:p.Met414CysfsTer4 | |
| NM_138691.3:c.1236del MANE Select | NP_619636.2:p.Met413CysfsTer4 |