Linked Data
ClinVar Variation Id:
225311
dbSNP Id:
rs200703204
ExAC:
3:111261145 A / AT
gnomAD v2:
3-111261145-A-AT
gnomAD v3:
3-111542298-A-AT
gnomAD v4:
3-111542298-A-AT
MyVariant Identifiers:
chr3:g.111261149dupT (hg19)
chr3:g.111261145_111261146insT (hg19)
chr3:g.111542302dupT (hg38)
chr3:g.111542298_111542299insT (hg38)
PubMed:
PMID:17847009
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.111542302dup , CM000665.2:g.111542302dup | GRCh38 |
| NC_000003.11:g.111261149dup , CM000665.1:g.111261149dup | GRCh37 |
| NC_000003.10:g.112743839dup | NCBI36 |
| NG_012156.1:g.5224dup | |
| NG_012156.2:g.5224dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283285.10:c.54dup | ENSP00000283285.5:p.Val19CysfsTer22 | |
| ENST00000352690.9:c.54dup MANE Select | ENSP00000342040.3:p.Val19CysfsTer22 | |
| ENST00000283285.9:c.54dup | ENSP00000283285.5:p.Val19CysfsTer22 | |
| ENST00000352690.8:c.54dup | ENSP00000342040.3:p.Val19CysfsTer22 | |
| ENST00000438817.6:c.54dup | ENSP00000389801.2:p.Val19CysfsTer22 | |
| ENST00000488054.1:c.54dup | ENSP00000417680.1:p.Val19CysfsTer22 | |
| ENST00000494798.1:c.54dup | ENSP00000417152.1:p.Val19CysfsTer22 | |
| NM_005816.4:c.54dup | NP_005807.1:p.Val19CysfsTer22 | |
| NM_198196.2:c.54dup | NP_937839.1:p.Val19CysfsTer22 | |
| XM_005247063.2:c.54dup | XP_005247120.1:p.Val19CysfsTer22 | |
| XM_006713469.2:c.54dup | XP_006713532.1:p.Val19CysfsTer22 | |
| XM_006713470.2:c.54dup | XP_006713533.1:p.Val19CysfsTer22 | |
| XR_241462.1:n.185dup | ||
| XR_241466.1:n.185dup | ||
| XR_924089.1:n.185dup | ||
| XR_924090.1:n.185dup | ||
| NM_001318889.1:c.54dup | NP_001305818.1:p.Val19CysfsTer22 | |
| NR_134917.1:n.224dup | ||
| XM_005247063.3:c.54dup | XP_005247120.1:p.Val19CysfsTer22 | |
| XM_006713469.3:c.54dup | XP_006713532.1:p.Val19CysfsTer22 | |
| XM_006713470.3:c.54dup | XP_006713533.1:p.Val19CysfsTer22 | |
| XM_017005521.1:c.54dup | XP_016861010.1:p.Val19CysfsTer22 | |
| XM_017005522.1:c.54dup | XP_016861011.1:p.Val19CysfsTer22 | |
| XR_001739977.1:n.185dup | ||
| NM_001318889.2:c.54dup | NP_001305818.1:p.Val19CysfsTer22 | |
| NM_005816.5:c.54dup MANE Select | NP_005807.1:p.Val19CysfsTer22 | |
| NM_198196.3:c.54dup | NP_937839.1:p.Val19CysfsTer22 | |
| NR_134917.2:n.106dup |