Canonical Allele Identifier: CA2454931050

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627244_120627248delinsTTATA , CM000685.2:g.120627244_120627248delinsTTATA	GRCh38
NC_000023.10:g.119761099_119761103delinsTTATA , CM000685.1:g.119761099_119761103delinsTTATA	GRCh37
NC_000023.9:g.119645127_119645131delinsTTATA	NCBI36
NG_016219.1:g.7903_7907delinsTATAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.-5-77_-5-73delinsTATAA MANE Select	ENSP00000304364.5:n.-5-77_-5-73delinsTATAA
ENST00000304661.5:c.-5-77_-5-73delinsTATAA	ENSP00000304364.5:n.-5-77_-5-73delinsTATAA
ENST00000371313.2:c.-6+8_-6+12delinsTATAA	ENSP00000360363.2:n.-6+8_-6+12delinsTATAA
NM_001011551.2:c.-5-77_-5-73delinsTATAA	NP_001011551.1:n.-5-77_-5-73delinsTATAA
NM_152692.4:c.-6+8_-6+12delinsTATAA	NP_689905.1:n.-6+8_-6+12delinsTATAA
NM_001011551.3:c.-5-77_-5-73delinsTATAA MANE Select	NP_001011551.1:n.-5-77_-5-73delinsTATAA
NM_152692.5:c.-6+8_-6+12delinsTATAA	NP_689905.1:n.-6+8_-6+12delinsTATAA