Canonical Allele Identifier: CA2823267480
Gene: C1GALT1C1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627165_120627166insGCTCC , CM000685.2:g.120627165_120627166insGCTCC GRCh38
NC_000023.10:g.119761020_119761021insGCTCC , CM000685.1:g.119761020_119761021insGCTCC GRCh37
NC_000023.9:g.119645048_119645049insGCTCC NCBI36
NG_016219.1:g.7985_7986insGGAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.1_2insGGAGC MANE Select ENSP00000304364.5:p.Met1ArgfsTer11
ENST00000304661.5:c.1_2insGGAGC ENSP00000304364.5:p.Met1ArgfsTer11
ENST00000371313.2:c.1_2insGGAGC ENSP00000360363.2:p.Met1ArgfsTer11
NM_001011551.2:c.1_2insGGAGC NP_001011551.1:p.Met1ArgfsTer11
NM_152692.4:c.1_2insGGAGC NP_689905.1:p.Met1ArgfsTer11
NM_001011551.3:c.1_2insGGAGC MANE Select NP_001011551.1:p.Met1ArgfsTer11
NM_152692.5:c.1_2insGGAGC NP_689905.1:p.Met1ArgfsTer11
Search 100 bp 5'
Search 100 bp 3'