Canonical Allele Identifier: CA2823267510

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627220_120627221insACAA , CM000685.2:g.120627220_120627221insACAA	GRCh38
NC_000023.10:g.119761075_119761076insACAA , CM000685.1:g.119761075_119761076insACAA	GRCh37
NC_000023.9:g.119645103_119645104insACAA	NCBI36
NG_016219.1:g.7930_7931insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.-5-50_-5-49insTTGT MANE Select	ENSP00000304364.5:n.-5-50_-5-49insTTGT
ENST00000304661.5:c.-5-50_-5-49insTTGT	ENSP00000304364.5:n.-5-50_-5-49insTTGT
ENST00000371313.2:c.-6+35_-6+36insTTGT	ENSP00000360363.2:n.-6+35_-6+36insTTGT
NM_001011551.2:c.-5-50_-5-49insTTGT	NP_001011551.1:n.-5-50_-5-49insTTGT
NM_152692.4:c.-6+35_-6+36insTTGT	NP_689905.1:n.-6+35_-6+36insTTGT
NM_001011551.3:c.-5-50_-5-49insTTGT MANE Select	NP_001011551.1:n.-5-50_-5-49insTTGT
NM_152692.5:c.-6+35_-6+36insTTGT	NP_689905.1:n.-6+35_-6+36insTTGT