Canonical Allele Identifier: CA2823267485
Gene: C1GALT1C1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627174_120627175insAGT , CM000685.2:g.120627174_120627175insAGT GRCh38
NC_000023.10:g.119761029_119761030insAGT , CM000685.1:g.119761029_119761030insAGT GRCh37
NC_000023.9:g.119645057_119645058insAGT NCBI36
NG_016219.1:g.7976_7977insACT

Transcript Alleles

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