Linked Data
ClinVar Variation Id:
178942
ClinVar RCV Id:
RCV000155718
dbSNP Id:
rs727504554
ExAC:
9:75303627 CA / C
gnomAD v2:
9-75303627-CA-C
gnomAD v3:
9-72688711-CA-C
gnomAD v4:
9-72688711-CA-C
MyVariant Identifiers:
chr9:g.75303630del (hg19)
chr9:g.75303628del (hg19)
chr9:g.72688714del (hg38)
chr9:g.72688712del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72688714del , CM000671.2:g.72688714del | GRCh38 |
| NC_000009.11:g.75303630del , CM000671.1:g.75303630del | GRCh37 |
| NC_000009.10:g.74493450del | NCBI36 |
| NG_008213.1:g.171914del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.22del MANE Select | ENSP00000297784.6:p.Ile8SerfsTer? | |
| ENST00000644967.1:c.-291del | ENSP00000496159.1:n.-291del | |
| ENST00000645053.1:c.-291del | ENSP00000493838.1:n.-291del | |
| ENST00000645208.2:c.22del | ENSP00000494684.1:p.Ile8SerfsTer? | |
| ENST00000645773.1:c.22del | ENSP00000493698.1:p.Ile8SerfsTer? | |
| ENST00000645787.1:n.50del | ||
| ENST00000646244.1:n.472del | ||
| ENST00000646619.1:c.-291del | ENSP00000493726.1:n.-291del | |
| ENST00000650689.1:n.446del | ||
| ENST00000651183.1:c.-291del | ENSP00000498723.1:n.-291del | |
| ENST00000297784.9:c.22del | ENSP00000297784.5:p.Ile8SerfsTer? | |
| ENST00000340019.4:c.22del | ENSP00000341433.3:p.Ile8SerfsTer? | |
| NM_138691.2:c.22del | NP_619636.2:p.Ile8SerfsTer? | |
| XM_011518213.1:c.610del | XP_011516515.1:p.Ile204SerfsTer? | |
| XM_017014256.1:c.25del | XP_016869745.1:p.Ile9SerfsTer? | |
| NM_138691.3:c.22del MANE Select | NP_619636.2:p.Ile8SerfsTer? |