Canonical Allele Identifier: CA2454931034
Gene: C1GALT1C1 HGNC NCBI

Linked Data

dbSNP Id: rs1927209318
gnomAD v4: X-120627188-GACTCTT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627190_120627195del , CM000685.2:g.120627190_120627195del GRCh38
NC_000023.10:g.119761045_119761050del , CM000685.1:g.119761045_119761050del GRCh37
NC_000023.9:g.119645073_119645078del NCBI36
NG_016219.1:g.7957_7962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.-5-23_-5-18del MANE Select ENSP00000304364.5:n.-5-23_-5-18del
ENST00000304661.5:c.-5-23_-5-18del ENSP00000304364.5:n.-5-23_-5-18del
ENST00000371313.2:c.-5-23_-5-18del ENSP00000360363.2:n.-5-23_-5-18del
NM_001011551.2:c.-5-23_-5-18del NP_001011551.1:n.-5-23_-5-18del
NM_152692.4:c.-5-23_-5-18del NP_689905.1:n.-5-23_-5-18del
NM_001011551.3:c.-5-23_-5-18del MANE Select NP_001011551.1:n.-5-23_-5-18del
NM_152692.5:c.-5-23_-5-18del NP_689905.1:n.-5-23_-5-18del
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