Canonical Allele Identifier: CA2823267509

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627221_120627225del , CM000685.2:g.120627221_120627225del	GRCh38
NC_000023.10:g.119761076_119761080del , CM000685.1:g.119761076_119761080del	GRCh37
NC_000023.9:g.119645104_119645108del	NCBI36
NG_016219.1:g.7926_7930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.-5-54_-5-50del MANE Select	ENSP00000304364.5:n.-5-54_-5-50del
ENST00000304661.5:c.-5-54_-5-50del	ENSP00000304364.5:n.-5-54_-5-50del
ENST00000371313.2:c.-6+31_-6+35del	ENSP00000360363.2:n.-6+31_-6+35del
NM_001011551.2:c.-5-54_-5-50del	NP_001011551.1:n.-5-54_-5-50del
NM_152692.4:c.-6+31_-6+35del	NP_689905.1:n.-6+31_-6+35del
NM_001011551.3:c.-5-54_-5-50del MANE Select	NP_001011551.1:n.-5-54_-5-50del
NM_152692.5:c.-6+31_-6+35del	NP_689905.1:n.-6+31_-6+35del