Canonical Allele Identifier: CA645614909
Gene: C1GALT1C1 HGNC NCBI

Linked Data

COSMIC: COSM1465292
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626690dup , CM000685.2:g.120626690dup GRCh38
NC_000023.10:g.119760545dup , CM000685.1:g.119760545dup GRCh37
NC_000023.9:g.119644573dup NCBI36
NG_016219.1:g.8466dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.482dup MANE Select ENSP00000304364.5:p.Asp162GlyfsTer18
ENST00000304661.5:c.482dup ENSP00000304364.5:p.Asp162GlyfsTer18
ENST00000371313.2:c.482dup ENSP00000360363.2:p.Asp162GlyfsTer18
NM_001011551.2:c.482dup NP_001011551.1:p.Asp162GlyfsTer18
NM_152692.4:c.482dup NP_689905.1:p.Asp162GlyfsTer18
NM_001011551.3:c.482dup MANE Select NP_001011551.1:p.Asp162GlyfsTer18
NM_152692.5:c.482dup NP_689905.1:p.Asp162GlyfsTer18
Search 100 bp 5'
Search 100 bp 3'