Canonical Allele Identifier: CA2579693212
Gene: C1GALT1C1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627178del , CM000685.2:g.120627178del GRCh38
NC_000023.10:g.119761033del , CM000685.1:g.119761033del GRCh37
NC_000023.9:g.119645061del NCBI36
NG_016219.1:g.7975del

Transcript Alleles

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