Canonical Allele Identifier: CA16040759
Gene: POMGNT1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370426
ClinVar RCV Id: RCV000410976
dbSNP Id: rs1057516478

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46197759_46197762delinsTCAC , CM000663.2:g.46197759_46197762delinsTCAC GRCh38
NC_000001.9:g.46436018_46436021delinsTCAC NCBI36
NC_000001.10:g.46663431_46663434delinsTCAC , CM000663.1:g.46663431_46663434delinsTCAC GRCh37
NG_009205.2:g.27544_27547delinsGTGA

Transcript Alleles

HGVS Amino-acid change
ENST00000371984.7:c.60_63delinsGTGA ENSP00000361052.3:p.Ser20ArgfsTer2
ENST00000371992.1:c.60_63delinsGTGA ENSP00000361060.1:p.Ser20ArgfsTer2
ENST00000396420.7:c.60_63delinsGTGA ENSP00000379698.3:p.Ser20ArgfsTer2
ENST00000489985.1:n.341_344delinsGTGA
ENST00000497439.5:n.184_187delinsGTGA
NM_001243766.1:c.60_63delinsGTGA VV NP_001230695.1:p.Ser20ArgfsTer2
NM_017739.3:c.60_63delinsGTGA VV NP_060209.3:p.Ser20ArgfsTer2
XM_005271010.1:c.60_63delinsGTGA XP_005271067.1:p.Ser20ArgfsTer2
XM_006710755.1:c.60_63delinsGTGA XP_006710818.1:p.Ser20ArgfsTer2
XM_006710756.1:c.60_63delinsGTGA XP_006710819.1:p.Ser20ArgfsTer2
XR_946706.1:n.219_222delinsGTGA
XM_017001690.1:c.60_63delinsGTGA XP_016857179.1:p.Ser20ArgfsTer2