Canonical Allele Identifier: CA2694604443
Gene: C1GALT1C1 HGNC NCBI

Linked Data

gnomAD v4: X-120627113-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627117del , CM000685.2:g.120627117del GRCh38
NC_000023.10:g.119760972del , CM000685.1:g.119760972del GRCh37
NC_000023.9:g.119645000del NCBI36
NG_016219.1:g.8037del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.53del MANE Select ENSP00000304364.5:p.Phe18SerfsTer4
ENST00000304661.5:c.53del ENSP00000304364.5:p.Phe18SerfsTer4
ENST00000371313.2:c.53del ENSP00000360363.2:p.Phe18SerfsTer4
NM_001011551.2:c.53del NP_001011551.1:p.Phe18SerfsTer4
NM_152692.4:c.53del NP_689905.1:p.Phe18SerfsTer4
NM_001011551.3:c.53del MANE Select NP_001011551.1:p.Phe18SerfsTer4
NM_152692.5:c.53del NP_689905.1:p.Phe18SerfsTer4
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