Canonical Allele Identifier: CA2823267475

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120626700_120626701insTTTTTTTTT , CM000685.2:g.120626700_120626701insTTTTTTTTT	GRCh38
NC_000023.10:g.119760555_119760556insTTTTTTTTT , CM000685.1:g.119760555_119760556insTTTTTTTTT	GRCh37
NC_000023.9:g.119644583_119644584insTTTTTTTTT	NCBI36
NG_016219.1:g.8451_8452insAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.467_468insAAAAAAAAA MANE Select	ENSP00000304364.5:p.Tyr156Ter
ENST00000304661.5:c.467_468insAAAAAAAAA	ENSP00000304364.5:p.Tyr156Ter
ENST00000371313.2:c.467_468insAAAAAAAAA	ENSP00000360363.2:p.Tyr156Ter
NM_001011551.2:c.467_468insAAAAAAAAA	NP_001011551.1:p.Tyr156Ter
NM_152692.4:c.467_468insAAAAAAAAA	NP_689905.1:p.Tyr156Ter
NM_001011551.3:c.467_468insAAAAAAAAA MANE Select	NP_001011551.1:p.Tyr156Ter
NM_152692.5:c.467_468insAAAAAAAAA	NP_689905.1:p.Tyr156Ter