Linked Data
ClinVar Variation Id:
1325125
ClinVar RCV Id:
RCV001783801
dbSNP Id:
rs2101958311
gnomAD v4:
1-158685206-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158685207dup , CM000663.2:g.158685207dup | GRCh38 |
| NC_000001.10:g.158654997dup , CM000663.1:g.158654997dup | GRCh37 |
| NC_000001.9:g.156921621dup | NCBI36 |
| NG_011474.1:g.6510dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.165dup MANE Select | ENSP00000495214.1:p.Gln56ThrfsTer9 | |
| ENST00000368147.8:c.165dup | ENSP00000357129.4:p.Gln56ThrfsTer9 | |
| ENST00000467387.1:c.132+33dup | ENSP00000476485.1:n.132+33dup | |
| ENST00000614909.4:c.165dup | ENSP00000482595.1:p.Gln56ThrfsTer9 | |
| NM_003126.2:c.165dup | NP_003117.2:p.Gln56ThrfsTer9 | |
| XM_011509916.1:c.165dup | XP_011508218.1:p.Gln56ThrfsTer9 | |
| XM_011509917.1:c.165dup | XP_011508219.1:p.Gln56ThrfsTer9 | |
| XM_011509918.1:c.165dup | XP_011508220.1:p.Gln56ThrfsTer9 | |
| XM_011509919.1:c.165dup | XP_011508221.1:p.Gln56ThrfsTer9 | |
| XR_921911.1:n.278dup | ||
| XR_921912.1:n.283dup | ||
| NM_003126.3:c.165dup | NP_003117.2:p.Gln56ThrfsTer9 | |
| XM_011509916.2:c.165dup | XP_011508218.1:p.Gln56ThrfsTer9 | |
| XM_011509917.3:c.165dup | XP_011508219.1:p.Gln56ThrfsTer9 | |
| XM_011509918.3:c.165dup | XP_011508220.1:p.Gln56ThrfsTer9 | |
| XM_011509919.3:c.165dup | XP_011508221.1:p.Gln56ThrfsTer9 | |
| XR_921911.3:n.291dup | ||
| XR_921912.2:n.293dup | ||
| NM_003126.4:c.165dup MANE Select | NP_003117.2:p.Gln56ThrfsTer9 |