Canonical Allele Identifier: CA2573132059

Gene: POMGNT1

Linked Data

• ClinVar Variation Id: 1477909
• ClinVar RCV Id: RCV001998471
• dbSNP Id: rs2148222600

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46197747_46197748delinsAA , CM000663.2:g.46197747_46197748delinsAA	GRCh38
NC_000001.10:g.46663419_46663420delinsAA , CM000663.1:g.46663419_46663420delinsAA	GRCh37
NC_000001.9:g.46436006_46436007delinsAA	NCBI36
NG_009205.2:g.27558_27559delinsTT
NG_009205.3:g.27558_27559delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.74_75delinsTT	ENSP00000379698.4:p.Trp25Phe
ENST00000477114.2:n.246_247delinsTT
ENST00000497439.6:n.246_247delinsTT
ENST00000684817.1:n.242_243delinsTT
ENST00000684898.1:n.246_247delinsTT
ENST00000685230.1:c.74_75delinsTT	ENSP00000510305.1:p.Trp25Phe
ENST00000685275.1:n.231_232delinsTT
ENST00000685444.1:c.74_75delinsTT	ENSP00000510762.1:p.Trp25Phe
ENST00000685704.1:n.246_247delinsTT
ENST00000685775.1:n.246_247delinsTT
ENST00000685833.1:n.219_220delinsTT
ENST00000686252.1:n.375_376delinsTT
ENST00000686379.1:c.74_75delinsTT	ENSP00000508913.1:p.Trp25Phe
ENST00000686724.1:n.246_247delinsTT
ENST00000686737.1:c.74_75delinsTT	ENSP00000508736.1:p.Trp25Phe
ENST00000687112.1:n.246_247delinsTT
ENST00000687149.1:c.74_75delinsTT	ENSP00000509745.1:p.Trp25Phe
ENST00000687197.1:c.74_75delinsTT	ENSP00000510749.1:p.Trp25Phe
ENST00000687235.1:n.246_247delinsTT
ENST00000687613.1:n.242_243delinsTT
ENST00000687683.1:c.74_75delinsTT	ENSP00000508522.1:p.Trp25Phe
ENST00000688032.1:n.246_247delinsTT
ENST00000688596.1:n.246_247delinsTT
ENST00000688608.1:c.74_75delinsTT	ENSP00000508890.1:p.Trp25Phe
ENST00000688919.1:n.227_228delinsTT
ENST00000689031.1:n.246_247delinsTT
ENST00000689717.1:n.246_247delinsTT
ENST00000689756.1:c.74_75delinsTT	ENSP00000509023.1:p.Trp25Phe
ENST00000690377.1:n.246_247delinsTT
ENST00000690678.1:c.74_75delinsTT	ENSP00000508703.1:p.Trp25Phe
ENST00000691209.1:c.74_75delinsTT	ENSP00000510112.1:p.Trp25Phe
ENST00000691243.1:c.74_75delinsTT	ENSP00000510654.1:p.Trp25Phe
ENST00000692169.1:n.246_247delinsTT
ENST00000692202.1:n.242_243delinsTT
ENST00000692322.1:c.74_75delinsTT	ENSP00000509017.1:p.Trp25Phe
ENST00000692369.1:c.74_75delinsTT	ENSP00000508453.1:p.Trp25Phe
ENST00000692599.1:n.246_247delinsTT
ENST00000692635.1:c.74_75delinsTT	ENSP00000508425.1:p.Trp25Phe
ENST00000693168.1:n.246_247delinsTT
ENST00000693218.1:c.74_75delinsTT	ENSP00000510577.1:p.Trp25Phe
ENST00000693223.1:n.722_723delinsTT
ENST00000693365.1:n.200_201delinsTT
ENST00000371984.8:c.74_75delinsTT MANE Select	ENSP00000361052.3:p.Trp25Phe
ENST00000371984.7:c.74_75delinsTT	ENSP00000361052.3:p.Trp25Phe
ENST00000371992.1:c.74_75delinsTT	ENSP00000361060.1:p.Trp25Phe
ENST00000396420.7:c.74_75delinsTT	ENSP00000379698.3:p.Trp25Phe
ENST00000489985.1:n.355_356delinsTT
ENST00000497439.5:n.198_199delinsTT
NM_001243766.1:c.74_75delinsTT	NP_001230695.1:p.Trp25Phe
NM_017739.3:c.74_75delinsTT	NP_060209.3:p.Trp25Phe
XM_005271010.1:c.74_75delinsTT	XP_005271067.1:p.Trp25Phe
XM_006710755.1:c.74_75delinsTT	XP_006710818.1:p.Trp25Phe
XM_006710756.1:c.74_75delinsTT	XP_006710819.1:p.Trp25Phe
XR_946706.1:n.233_234delinsTT
XM_017001690.1:c.74_75delinsTT	XP_016857179.1:p.Trp25Phe
NM_001243766.2:c.74_75delinsTT	NP_001230695.2:p.Trp25Phe
NM_017739.4:c.74_75delinsTT MANE Select	NP_060209.4:p.Trp25Phe