Canonical Allele Identifier: CA16040757
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371286
dbSNP Id: rs1057517153

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46197019_46197020insT , CM000663.2:g.46197019_46197020insT GRCh38
NC_000001.10:g.46662691_46662692insT , CM000663.1:g.46662691_46662692insT GRCh37
NC_000001.9:g.46435278_46435279insT NCBI36
NG_009205.2:g.28286_28287insA
NG_009205.3:g.28286_28287insA

Transcript Alleles

HGVS Amino-acid change
ENST00000396420.8:c.185_186insA ENSP00000379698.4:p.Arg63AlafsTer5
ENST00000477114.2:n.357_358insA
ENST00000497439.6:n.357_358insA
ENST00000684817.1:n.353_354insA
ENST00000684898.1:n.357_358insA
ENST00000685230.1:c.185_186insA ENSP00000510305.1:p.Arg63AlafsTer5
ENST00000685275.1:n.342_343insA
ENST00000685444.1:c.185_186insA ENSP00000510762.1:p.Arg63AlafsTer5
ENST00000685704.1:n.357_358insA
ENST00000685775.1:n.357_358insA
ENST00000685833.1:n.330_331insA
ENST00000686252.1:n.486_487insA
ENST00000686379.1:c.185_186insA ENSP00000508913.1:p.Arg63AlafsTer5
ENST00000686724.1:n.357_358insA
ENST00000686737.1:c.185_186insA ENSP00000508736.1:p.Arg63AlafsTer5
ENST00000687112.1:n.357_358insA
ENST00000687149.1:c.185_186insA ENSP00000509745.1:p.Arg63AlafsTer5
ENST00000687197.1:c.185_186insA ENSP00000510749.1:p.Arg63AlafsTer5
ENST00000687235.1:n.357_358insA
ENST00000687613.1:n.353_354insA
ENST00000687683.1:c.185_186insA ENSP00000508522.1:p.Arg63AlafsTer5
ENST00000688032.1:n.357_358insA
ENST00000688596.1:n.357_358insA
ENST00000688608.1:c.185_186insA ENSP00000508890.1:p.Arg63AlafsTer5
ENST00000688919.1:n.338_339insA
ENST00000689031.1:n.357_358insA
ENST00000689717.1:n.357_358insA
ENST00000689756.1:c.185_186insA ENSP00000509023.1:p.Arg63AlafsTer5
ENST00000690377.1:n.357_358insA
ENST00000690678.1:c.185_186insA ENSP00000508703.1:p.Arg63AlafsTer5
ENST00000691209.1:c.185_186insA ENSP00000510112.1:p.Arg63AlafsTer5
ENST00000691243.1:c.185_186insA ENSP00000510654.1:p.Arg63AlafsTer5
ENST00000692169.1:n.357_358insA
ENST00000692202.1:n.353_354insA
ENST00000692322.1:c.*37_*38insA ENSP00000509017.1:n.*37_*38insA
ENST00000692369.1:c.185_186insA ENSP00000508453.1:p.Arg63AlafsTer5
ENST00000692599.1:n.357_358insA
ENST00000692635.1:c.185_186insA ENSP00000508425.1:p.Arg63AlafsTer5
ENST00000693168.1:n.357_358insA
ENST00000693218.1:c.185_186insA ENSP00000510577.1:p.Arg63AlafsTer5
ENST00000693223.1:n.829_830insA
ENST00000693365.1:n.311_312insA
ENST00000371984.8:c.185_186insA MANE Select ENSP00000361052.3:p.Arg63AlafsTer5
ENST00000371984.7:c.185_186insA ENSP00000361052.3:p.Arg63AlafsTer5
ENST00000371992.1:c.185_186insA ENSP00000361060.1:p.Arg63AlafsTer5
ENST00000396420.7:c.185_186insA ENSP00000379698.3:p.Arg63AlafsTer5
ENST00000489985.1:n.466_467insA
ENST00000497439.5:n.309_310insA
NM_001243766.1:c.185_186insA NP_001230695.1:p.Arg63AlafsTer5
NM_001290129.1:c.119_120insA NP_001277058.1:p.Arg41AlafsTer5
NM_001290130.1:c.-245_-244insA NP_001277059.1:n.-245_-244insA
NM_017739.3:c.185_186insA NP_060209.3:p.Arg63AlafsTer5
XM_005271010.1:c.185_186insA XP_005271067.1:p.Arg63AlafsTer5
XM_006710755.1:c.185_186insA XP_006710818.1:p.Arg63AlafsTer5
XM_006710756.1:c.185_186insA XP_006710819.1:p.Arg63AlafsTer5
XM_011541759.1:c.119_120insA XP_011540061.1:p.Arg41AlafsTer5
XM_011541760.1:c.119_120insA XP_011540062.1:p.Arg41AlafsTer5
XR_946706.1:n.344_345insA
XM_011541760.3:c.119_120insA XP_011540062.1:p.Arg41AlafsTer5
XM_017001690.1:c.185_186insA XP_016857179.1:p.Arg63AlafsTer5
NM_001243766.2:c.185_186insA NP_001230695.2:p.Arg63AlafsTer5
NM_001290129.2:c.119_120insA NP_001277058.2:p.Arg41AlafsTer5
NM_001290130.2:c.-245_-244insA NP_001277059.2:n.-245_-244insA
NM_017739.4:c.185_186insA MANE Select NP_060209.4:p.Arg63AlafsTer5