Canonical Allele Identifier: CA2694604454
Gene: C1GALT1C1 HGNC NCBI

Linked Data

gnomAD v4: X-120627208-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627213del , CM000685.2:g.120627213del GRCh38
NC_000023.10:g.119761068del , CM000685.1:g.119761068del GRCh37
NC_000023.9:g.119645096del NCBI36
NG_016219.1:g.7942del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.-5-38del MANE Select ENSP00000304364.5:n.-5-38del
ENST00000304661.5:c.-5-38del ENSP00000304364.5:n.-5-38del
ENST00000371313.2:c.-5-38del ENSP00000360363.2:n.-5-38del
NM_001011551.2:c.-5-38del NP_001011551.1:n.-5-38del
NM_152692.4:c.-5-38del NP_689905.1:n.-5-38del
NM_001011551.3:c.-5-38del MANE Select NP_001011551.1:n.-5-38del
NM_152692.5:c.-5-38del NP_689905.1:n.-5-38del
Search 100 bp 5'
Search 100 bp 3'