Linked Data
ClinVar Variation Id:
423956
ClinVar RCV Id:
RCV000482038
dbSNP Id:
rs1064796717
gnomAD v4:
11-78574364-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78574368del , CM000673.2:g.78574368del | GRCh38 |
| NC_000011.9:g.78285413del , CM000673.1:g.78285413del | GRCh37 |
| NC_000011.8:g.77963061del | NCBI36 |
| NG_042046.1:g.5500del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529771.2:c.-541+464del | ENSP00000435298.2:n.-541+464del | |
| ENST00000695114.1:n.426del | ||
| ENST00000695115.1:c.-633+464del | ENSP00000511705.1:n.-633+464del | |
| ENST00000695116.1:c.-541+464del | ENSP00000511706.1:n.-541+464del | |
| ENST00000695117.1:n.36+464del | ||
| ENST00000695341.1:c.124del | ENSP00000511816.1:p.Glu42SerfsTer8 | |
| ENST00000695342.1:c.-541+425del | ENSP00000511817.1:n.-541+425del | |
| ENST00000695343.1:c.-804+464del | ENSP00000511818.1:n.-804+464del | |
| ENST00000695344.1:c.124del | ENSP00000511819.1:p.Glu42SerfsTer23 | |
| ENST00000695345.1:c.-541+464del | ENSP00000511820.1:n.-541+464del | |
| ENST00000695346.1:c.124del | ENSP00000511821.1:p.Glu42SerfsTer23 | |
| ENST00000695347.1:c.124del | ENSP00000511822.1:p.Glu42SerfsTer23 | |
| ENST00000695348.1:c.-460+464del | ENSP00000511823.1:n.-460+464del | |
| ENST00000695349.1:c.124del | ENSP00000511824.1:p.Glu42SerfsTer23 | |
| ENST00000695350.1:c.124del | ENSP00000511825.1:p.Glu42SerfsTer23 | |
| ENST00000695351.1:c.124del | ENSP00000511826.1:p.Glu42SerfsTer23 | |
| ENST00000695352.1:c.-579+464del | ENSP00000511827.1:n.-579+464del | |
| ENST00000695353.1:c.-654+464del | ENSP00000511828.1:n.-654+464del | |
| ENST00000695354.1:c.124del | ENSP00000511829.1:p.Glu42SerfsTer23 | |
| ENST00000695355.1:c.124del | ENSP00000511830.1:p.Glu42SerfsTer23 | |
| ENST00000695356.1:c.124del | ENSP00000511831.1:p.Glu42SerfsTer8 | |
| ENST00000695357.1:c.124del | ENSP00000511832.1:p.Glu42SerfsTer23 | |
| ENST00000695358.1:c.124del | ENSP00000511833.1:p.Glu42SerfsTer23 | |
| ENST00000695359.1:c.124del | ENSP00000511834.1:p.Glu42SerfsTer23 | |
| ENST00000695360.1:c.124del | ENSP00000511835.1:p.Glu42SerfsTer23 | |
| ENST00000695361.1:c.124del | ENSP00000511836.1:p.Glu42SerfsTer23 | |
| ENST00000695362.1:c.124del | ENSP00000511837.1:p.Glu42SerfsTer23 | |
| ENST00000695364.1:n.462del | ||
| ENST00000695365.1:n.414del | ||
| ENST00000695366.1:c.124del | ENSP00000511838.1:p.Glu42SerfsTer23 | |
| ENST00000281038.10:c.124del MANE Select | ENSP00000281038.5:p.Glu42SerfsTer23 | |
| ENST00000281038.9:c.124del | ENSP00000281038.5:p.Glu42SerfsTer23 | |
| ENST00000529571.1:c.-541+464del | ENSP00000433478.1:n.-541+464del | |
| ENST00000529880.1:c.124del | ENSP00000432240.1:p.Glu42SerfsTer23 | |
| NM_001243251.1:c.-541+464del | NP_001230180.1:n.-541+464del | |
| NM_024678.5:c.124del | NP_078954.4:p.Glu42SerfsTer23 | |
| XM_011545253.1:c.124del | XP_011543555.1:p.Glu42SerfsTer23 | |
| XR_950050.1:n.493del | ||
| XR_950051.1:n.493del | ||
| XM_011545253.2:c.124del | XP_011543555.1:p.Glu42SerfsTer23 | |
| XM_017018302.2:c.124del | XP_016873791.1:p.Glu42SerfsTer23 | |
| XM_017018303.1:c.-613+464del | XP_016873792.1:n.-613+464del | |
| XM_017018304.2:c.-541+464del | XP_016873793.1:n.-541+464del | |
| XR_001747963.2:n.478del | ||
| XR_001747964.2:n.478del | ||
| XR_001747965.2:n.478del | ||
| XR_001747966.2:n.478del | ||
| NM_024678.6:c.124del MANE Select | NP_078954.4:p.Glu42SerfsTer23 | |
| NM_001243251.2:c.-541+464del | NP_001230180.1:n.-541+464del |