Canonical Allele Identifier: CA2823267516

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627243_120627244insA , CM000685.2:g.120627243_120627244insA	GRCh38
NC_000023.10:g.119761098_119761099insA , CM000685.1:g.119761098_119761099insA	GRCh37
NC_000023.9:g.119645126_119645127insA	NCBI36
NG_016219.1:g.7907_7908insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.-5-73_-5-72insT MANE Select	ENSP00000304364.5:n.-5-73_-5-72insT
ENST00000304661.5:c.-5-73_-5-72insT	ENSP00000304364.5:n.-5-73_-5-72insT
ENST00000371313.2:c.-6+12_-6+13insT	ENSP00000360363.2:n.-6+12_-6+13insT
NM_001011551.2:c.-5-73_-5-72insT	NP_001011551.1:n.-5-73_-5-72insT
NM_152692.4:c.-6+12_-6+13insT	NP_689905.1:n.-6+12_-6+13insT
NM_001011551.3:c.-5-73_-5-72insT MANE Select	NP_001011551.1:n.-5-73_-5-72insT
NM_152692.5:c.-6+12_-6+13insT	NP_689905.1:n.-6+12_-6+13insT