Canonical Allele Identifier: CA2823267495
Gene: C1GALT1C1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627194_120627197del , CM000685.2:g.120627194_120627197del GRCh38
NC_000023.10:g.119761049_119761052del , CM000685.1:g.119761049_119761052del GRCh37
NC_000023.9:g.119645077_119645080del NCBI36
NG_016219.1:g.7954_7957del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.-5-26_-5-23del MANE Select ENSP00000304364.5:n.-5-26_-5-23del
ENST00000304661.5:c.-5-26_-5-23del ENSP00000304364.5:n.-5-26_-5-23del
ENST00000371313.2:c.-5-26_-5-23del ENSP00000360363.2:n.-5-26_-5-23del
NM_001011551.2:c.-5-26_-5-23del NP_001011551.1:n.-5-26_-5-23del
NM_152692.4:c.-5-26_-5-23del NP_689905.1:n.-5-26_-5-23del
NM_001011551.3:c.-5-26_-5-23del MANE Select NP_001011551.1:n.-5-26_-5-23del
NM_152692.5:c.-5-26_-5-23del NP_689905.1:n.-5-26_-5-23del
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