Canonical Allele Identifier: CA2579693208
Gene: C1GALT1C1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626974del , CM000685.2:g.120626974del GRCh38
NC_000023.10:g.119760829del , CM000685.1:g.119760829del GRCh37
NC_000023.9:g.119644857del NCBI36
NG_016219.1:g.8178del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.194del MANE Select ENSP00000304364.5:p.Lys65ArgfsTer11
ENST00000304661.5:c.194del ENSP00000304364.5:p.Lys65ArgfsTer11
ENST00000371313.2:c.194del ENSP00000360363.2:p.Lys65ArgfsTer11
NM_001011551.2:c.194del NP_001011551.1:p.Lys65ArgfsTer11
NM_152692.4:c.194del NP_689905.1:p.Lys65ArgfsTer11
NM_001011551.3:c.194del MANE Select NP_001011551.1:p.Lys65ArgfsTer11
NM_152692.5:c.194del NP_689905.1:p.Lys65ArgfsTer11
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