Canonical Allele Identifier: CA2823267482

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627170_120627177del , CM000685.2:g.120627170_120627177del	GRCh38
NC_000023.10:g.119761025_119761032del , CM000685.1:g.119761025_119761032del	GRCh37
NC_000023.9:g.119645053_119645060del	NCBI36
NG_016219.1:g.7974_7981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.-5-6_-4del
ENST00000304661.5:c.-5-6_-4del
ENST00000371313.2:c.-5-6_-4del
NM_001011551.2:c.-5-6_-4del
NM_152692.4:c.-5-6_-4del
NM_001011551.3:c.-5-6_-4del
NM_152692.5:c.-5-6_-4del