Canonical Allele Identifier: CA2823267472
Gene: C1GALT1C1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626406dup , CM000685.2:g.120626406dup GRCh38
NC_000023.10:g.119760261dup , CM000685.1:g.119760261dup GRCh37
NC_000023.9:g.119644289dup NCBI36
NG_016219.1:g.8745dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.761dup MANE Select ENSP00000304364.5:p.Ile255TyrfsTer2
ENST00000304661.5:c.761dup ENSP00000304364.5:p.Ile255TyrfsTer2
ENST00000371313.2:c.761dup ENSP00000360363.2:p.Ile255TyrfsTer2
NM_001011551.2:c.761dup NP_001011551.1:p.Ile255TyrfsTer2
NM_152692.4:c.761dup NP_689905.1:p.Ile255TyrfsTer2
NM_001011551.3:c.761dup MANE Select NP_001011551.1:p.Ile255TyrfsTer2
NM_152692.5:c.761dup NP_689905.1:p.Ile255TyrfsTer2
Search 100 bp 5'
Search 100 bp 3'