Canonical Allele Identifier: CA2454931032
Gene: C1GALT1C1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627188_120627194delinsGACTCTT , CM000685.2:g.120627188_120627194delinsGACTCTT GRCh38
NC_000023.10:g.119761043_119761049delinsGACTCTT , CM000685.1:g.119761043_119761049delinsGACTCTT GRCh37
NC_000023.9:g.119645071_119645077delinsGACTCTT NCBI36
NG_016219.1:g.7957_7963delinsAAGAGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.-5-23_-5-17delinsAAGAGTC MANE Select ENSP00000304364.5:n.-5-23_-5-17delinsAAGAGTC
ENST00000304661.5:c.-5-23_-5-17delinsAAGAGTC ENSP00000304364.5:n.-5-23_-5-17delinsAAGAGTC
ENST00000371313.2:c.-5-23_-5-17delinsAAGAGTC ENSP00000360363.2:n.-5-23_-5-17delinsAAGAGTC
NM_001011551.2:c.-5-23_-5-17delinsAAGAGTC NP_001011551.1:n.-5-23_-5-17delinsAAGAGTC
NM_152692.4:c.-5-23_-5-17delinsAAGAGTC NP_689905.1:n.-5-23_-5-17delinsAAGAGTC
NM_001011551.3:c.-5-23_-5-17delinsAAGAGTC MANE Select NP_001011551.1:n.-5-23_-5-17delinsAAGAGTC
NM_152692.5:c.-5-23_-5-17delinsAAGAGTC NP_689905.1:n.-5-23_-5-17delinsAAGAGTC
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