Linked Data
dbSNP Id:
rs1192554052
gnomAD v4:
9-133352542-CAG-C
MyVariant Identifiers:
chr9:g.133352543_133352544del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352543_133352544del , CM000671.2:g.133352543_133352544del | GRCh38 |
| NC_000009.10:g.135209219_135209220del | NCBI36 |
| NG_008477.1:g.8963_8964del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.653_654del MANE Select | ENSP00000361042.3:p.Pro218ArgfsTer29 | |
| ENST00000371974.7:c.653_654del | ENSP00000361042.3:p.Pro218ArgfsTer29 | |
| ENST00000437995.1:n.563_564del | ||
| ENST00000495952.5:n.643_644del | ||
| ENST00000615505.4:c.326_327del | ENSP00000482067.1:p.Pro109ArgfsTer29 | |
| NM_001280787.1:c.326_327del | NP_001267716.1:p.Pro109ArgfsTer29 | |
| NM_003172.3:c.653_654del | NP_003163.1:p.Pro218ArgfsTer29 | |
| XM_011518942.1:c.326_327del | XP_011517244.1:p.Pro109ArgfsTer29 | |
| NM_003172.4:c.653_654del MANE Select | NP_003163.1:p.Pro218ArgfsTer29 |