Canonical Allele Identifier: CA2579693209
Gene: C1GALT1C1 HGNC NCBI

Linked Data

gnomAD v4: X-120627165-AT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627170del , CM000685.2:g.120627170del GRCh38
NC_000023.10:g.119761025del , CM000685.1:g.119761025del GRCh37
NC_000023.9:g.119645053del NCBI36
NG_016219.1:g.7985del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.1del MANE Select ENSP00000304364.5:p.Met1CysfsTer9
ENST00000304661.5:c.1del ENSP00000304364.5:p.Met1CysfsTer9
ENST00000371313.2:c.1del ENSP00000360363.2:p.Met1CysfsTer9
NM_001011551.2:c.1del NP_001011551.1:p.Met1CysfsTer9
NM_152692.4:c.1del NP_689905.1:p.Met1CysfsTer9
NM_001011551.3:c.1del MANE Select NP_001011551.1:p.Met1CysfsTer9
NM_152692.5:c.1del NP_689905.1:p.Met1CysfsTer9
Search 100 bp 5'
Search 100 bp 3'