Linked Data
ClinVar Variation Id:
25225
dbSNP Id:
rs111033738
gnomAD v3:
9-34648364-GC-G
gnomAD v4:
9-34648364-GC-G
MyVariant Identifiers:
chr9:g.34648364del (hg19)
chr9:g.34648364delC (hg19)
chr9:g.34648367del (hg38)
PubMed:
PMID:11261429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648367del , CM000671.2:g.34648367del | GRCh38 |
| NC_000009.11:g.34648364del , CM000671.1:g.34648364del | GRCh37 |
| NC_000009.10:g.34638364del | NCBI36 |
| NG_009029.1:g.6730del | |
| NG_028966.1:g.1183del | |
| NG_009029.2:g.6779del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*186del | ENSP00000509954.1:n.*186del | |
| ENST00000378842.8:c.598del MANE Select | ENSP00000368119.4:p.Gln200SerfsTer19 | |
| ENST00000378842.7:c.598del | ENSP00000368119.3:p.Gln200SerfsTer19 | |
| ENST00000450095.6:c.271del | ENSP00000401956.2:p.Gln91SerfsTer19 | |
| ENST00000472111.5:n.854del | ||
| ENST00000473506.6:c.*186del | ENSP00000432839.2:n.*186del | |
| ENST00000473529.5:n.757del | ||
| ENST00000485531.1:n.1192del | ||
| ENST00000487381.5:n.983del | ||
| ENST00000489643.6:n.373del | ||
| ENST00000554085.5:c.*342del | ENSP00000450419.1:n.*342del | |
| ENST00000554139.5:n.844del | ||
| ENST00000554550.5:c.*218del | ENSP00000451435.1:n.*218del | |
| ENST00000554638.5:n.1070del | ||
| ENST00000554897.5:c.*285del | ENSP00000450942.1:n.*285del | |
| ENST00000554944.5:n.947del | ||
| ENST00000555020.5:n.754del | ||
| ENST00000555086.5:n.602del | ||
| ENST00000555214.5:n.419del | ||
| ENST00000556244.1:c.585del | ||
| ENST00000556278.1:c.343del | ENSP00000451792.1:p.Gln115SerfsTer19 | |
| ENST00000556494.5:n.719del | ||
| ENST00000557706.5:n.1160del | ||
| NM_000155.3:c.598del | NP_000146.2:p.Gln200SerfsTer19 | |
| NM_001258332.1:c.271del | NP_001245261.1:p.Gln91SerfsTer19 | |
| NM_000155.4:c.598del MANE Select | NP_000146.2:p.Gln200SerfsTer19 | |
| NM_001258332.2:c.271del | NP_001245261.1:p.Gln91SerfsTer19 |