Canonical Allele Identifier: CA2823267479
Gene: C1GALT1C1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627150_120627151insACTG , CM000685.2:g.120627150_120627151insACTG GRCh38
NC_000023.10:g.119761005_119761006insACTG , CM000685.1:g.119761005_119761006insACTG GRCh37
NC_000023.9:g.119645033_119645034insACTG NCBI36
NG_016219.1:g.8000_8001insCAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.16_17insCAGT MANE Select ENSP00000304364.5:p.Ser6ThrfsTer25
ENST00000304661.5:c.16_17insCAGT ENSP00000304364.5:p.Ser6ThrfsTer25
ENST00000371313.2:c.16_17insCAGT ENSP00000360363.2:p.Ser6ThrfsTer25
NM_001011551.2:c.16_17insCAGT NP_001011551.1:p.Ser6ThrfsTer25
NM_152692.4:c.16_17insCAGT NP_689905.1:p.Ser6ThrfsTer25
NM_001011551.3:c.16_17insCAGT MANE Select NP_001011551.1:p.Ser6ThrfsTer25
NM_152692.5:c.16_17insCAGT NP_689905.1:p.Ser6ThrfsTer25
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