Linked Data
ClinVar Variation Id:
46023
dbSNP Id:
rs397517350
gnomAD v3:
10-71798489-AC-A
gnomAD v4:
10-71798489-AC-A
MyVariant Identifiers:
chr10:g.73558249del (hg19)
chr10:g.73558247del (hg19)
chr10:g.71798492del (hg38)
chr10:g.71798490del (hg38)
PubMed:
PMID:12075507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71798492del , CM000672.2:g.71798492del | GRCh38 |
| NC_000010.10:g.73558249del , CM000672.1:g.73558249del | GRCh37 |
| NC_000010.9:g.73228255del | NCBI36 |
| NG_008835.1:g.406546del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.6968del MANE Select | ENSP00000224721.9:p.Pro2323LeufsTer? | |
| ENST00000642965.1:c.901del | ENSP00000495222.1:n.901del | |
| ENST00000647092.1:c.565del | ENSP00000495176.1:n.565del | |
| ENST00000224721.10:c.6983del | ENSP00000224721.8:p.Pro2328LeufsTer? | |
| ENST00000398788.4:c.248del | ENSP00000381768.3:p.Pro83LeufsTer? | |
| ENST00000475158.1:n.504del | ||
| ENST00000619887.4:c.248del | ENSP00000478374.1:p.Pro83LeufsTer? | |
| ENST00000622827.4:c.6968del | ENSP00000483211.1:p.Pro2323LeufsTer? | |
| NM_001171933.1:c.248del | NP_001165404.1:p.Pro83LeufsTer? | |
| NM_001171934.1:c.248del | NP_001165405.1:p.Pro83LeufsTer? | |
| NM_022124.5:c.6968del | NP_071407.4:p.Pro2323LeufsTer? | |
| XM_006717940.2:c.7163del | XP_006718003.1:p.Pro2388LeufsTer? | |
| XM_006717942.2:c.7097del | XP_006718005.1:p.Pro2366LeufsTer? | |
| XM_011540039.1:c.7160del | XP_011538341.1:p.Pro2387LeufsTer? | |
| XM_011540040.1:c.7157del | XP_011538342.1:p.Pro2386LeufsTer? | |
| XM_011540041.1:c.7103del | XP_011538343.1:p.Pro2368LeufsTer? | |
| XM_011540042.1:c.7073del | XP_011538344.1:p.Pro2358LeufsTer? | |
| XM_011540043.1:c.7163del | XP_011538345.1:p.Pro2388LeufsTer? | |
| XM_011540044.1:c.7028del | XP_011538346.1:p.Pro2343LeufsTer? | |
| XM_011540045.1:c.7163del | XP_011538347.1:p.Pro2388LeufsTer? | |
| XM_011540046.1:c.6623del | XP_011538348.1:p.Pro2208LeufsTer? | |
| XM_011540047.1:c.5981del | XP_011538349.1:p.Pro1994LeufsTer? | |
| XM_011540052.1:c.3491del | XP_011538354.1:p.Pro1164LeufsTer? | |
| NM_022124.6:c.6968del MANE Select | NP_071407.4:p.Pro2323LeufsTer? |