Linked Data
ClinVar Variation Id:
25171
dbSNP Id:
rs111033689
ExAC:
9:34647850 CT / C
gnomAD v4:
9-34647853-CT-C
MyVariant Identifiers:
chr9:g.34647851del (hg19)
chr9:g.34647851delT (hg19)
chr9:g.34647854del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647854del , CM000671.2:g.34647854del | GRCh38 |
| NC_000009.11:g.34647851del , CM000671.1:g.34647851del | GRCh37 |
| NC_000009.10:g.34637851del | NCBI36 |
| NG_009029.1:g.6217del | |
| NG_028966.1:g.670del | |
| NG_009029.2:g.6266del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.351del | ENSP00000509954.1:p.Gly118ValfsTer12 | |
| ENST00000378842.8:c.400del MANE Select | ENSP00000368119.4:p.Trp134GlyfsTer4 | |
| ENST00000378842.7:c.400del | ENSP00000368119.3:p.Trp134GlyfsTer4 | |
| ENST00000450095.6:c.73del | ENSP00000401956.2:p.Trp25GlyfsTer4 | |
| ENST00000465543.6:n.739del | ||
| ENST00000472111.5:n.656del | ||
| ENST00000473506.6:c.351del | ENSP00000432839.2:p.Gly118ValfsTer12 | |
| ENST00000473529.5:n.536del | ||
| ENST00000485531.1:n.841del | ||
| ENST00000487381.5:n.785del | ||
| ENST00000489643.6:n.283-261del | ||
| ENST00000554085.5:c.*144del | ENSP00000450419.1:n.*144del | |
| ENST00000554139.5:n.579del | ||
| ENST00000554550.5:c.*20del | ENSP00000451435.1:n.*20del | |
| ENST00000554638.5:n.872del | ||
| ENST00000554897.5:c.*20del | ENSP00000450942.1:n.*20del | |
| ENST00000554944.5:n.596del | ||
| ENST00000555020.5:n.556del | ||
| ENST00000555086.5:n.404del | ||
| ENST00000555214.5:n.262-194del | ||
| ENST00000556244.1:c.387del | ||
| ENST00000556278.1:c.253-261del | ENSP00000451792.1:n.253-261del | |
| ENST00000556494.5:n.521del | ||
| ENST00000557541.5:n.544del | ||
| ENST00000557706.5:n.962del | ||
| NM_000155.3:c.400del | NP_000146.2:p.Trp134GlyfsTer4 | |
| NM_001258332.1:c.73del | NP_001245261.1:p.Trp25GlyfsTer4 | |
| NM_000155.4:c.400del MANE Select | NP_000146.2:p.Trp134GlyfsTer4 | |
| NM_001258332.2:c.73del | NP_001245261.1:p.Trp25GlyfsTer4 |