Canonical Allele Identifier: CA2454930958
Gene: C1GALT1C1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627008_120627013delinsCAAGAT , CM000685.2:g.120627008_120627013delinsCAAGAT GRCh38
NC_000023.10:g.119760863_119760868delinsCAAGAT , CM000685.1:g.119760863_119760868delinsCAAGAT GRCh37
NC_000023.9:g.119644891_119644896delinsCAAGAT NCBI36
NG_016219.1:g.8138_8143delinsATCTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.154_159delinsATCTTG MANE Select ENSP00000304364.5:p.Ile52=
ENST00000304661.5:c.154_159delinsATCTTG ENSP00000304364.5:p.Ile52=
ENST00000371313.2:c.154_159delinsATCTTG ENSP00000360363.2:p.Ile52=
NM_001011551.2:c.154_159delinsATCTTG NP_001011551.1:p.Ile52=
NM_152692.4:c.154_159delinsATCTTG NP_689905.1:p.Ile52=
NM_001011551.3:c.154_159delinsATCTTG MANE Select NP_001011551.1:p.Ile52=
NM_152692.5:c.154_159delinsATCTTG NP_689905.1:p.Ile52=
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