Canonical Allele Identifier: CA2823267517

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627249_120627250del , CM000685.2:g.120627249_120627250del	GRCh38
NC_000023.10:g.119761104_119761105del , CM000685.1:g.119761104_119761105del	GRCh37
NC_000023.9:g.119645132_119645133del	NCBI36
NG_016219.1:g.7905_7906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.-5-75_-5-74del MANE Select	ENSP00000304364.5:n.-5-75_-5-74del
ENST00000304661.5:c.-5-75_-5-74del	ENSP00000304364.5:n.-5-75_-5-74del
ENST00000371313.2:c.-6+10_-6+11del	ENSP00000360363.2:n.-6+10_-6+11del
NM_001011551.2:c.-5-75_-5-74del	NP_001011551.1:n.-5-75_-5-74del
NM_152692.4:c.-6+10_-6+11del	NP_689905.1:n.-6+10_-6+11del
NM_001011551.3:c.-5-75_-5-74del MANE Select	NP_001011551.1:n.-5-75_-5-74del
NM_152692.5:c.-6+10_-6+11del	NP_689905.1:n.-6+10_-6+11del