Canonical Allele Identifier: CA2317699166
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399235_1399247delinsTCAGCGCCTCACC , CM000681.2:g.1399235_1399247delinsTCAGCGCCTCACC GRCh38
NC_000019.9:g.1399234_1399246delinsTCAGCGCCTCACC , CM000681.1:g.1399234_1399246delinsTCAGCGCCTCACC GRCh37
NC_000019.8:g.1350234_1350246delinsTCAGCGCCTCACC NCBI36
NG_009785.1:g.7307_7319delinsGGTGAGGCGCTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-52_392-40delinsGGTGAGGCGCTGA MANE Select ENSP00000252288.1:n.392-52_392-40delinsGGTGAGGCGCTGA
ENST00000447102.8:c.392-52_392-40delinsGGTGAGGCGCTGA ENSP00000403536.2:n.392-52_392-40delinsGGTGAGGCGCTGA
ENST00000591788.3:c.75-52_75-40delinsGGTGAGGCGCTGA
ENST00000640164.1:n.225-52_225-40delinsGGTGAGGCGCTGA
ENST00000640762.1:c.323-52_323-40delinsGGTGAGGCGCTGA ENSP00000492031.1:n.323-52_323-40delinsGGTGAGGCGCTGA
ENST00000252288.6:c.392-52_392-40delinsGGTGAGGCGCTGA ENSP00000252288.1:n.392-52_392-40delinsGGTGAGGCGCTGA
ENST00000447102.7:c.392-52_392-40delinsGGTGAGGCGCTGA ENSP00000403536.2:n.392-52_392-40delinsGGTGAGGCGCTGA
ENST00000591788.2:c.77-52_77-40delinsGGTGAGGCGCTGA ENSP00000466341.2:n.77-52_77-40delinsGGTGAGGCGCTGA
NM_000156.5:c.392-52_392-40delinsGGTGAGGCGCTGA NP_000147.1:n.392-52_392-40delinsGGTGAGGCGCTGA
NM_138924.2:c.392-52_392-40delinsGGTGAGGCGCTGA NP_620279.1:n.392-52_392-40delinsGGTGAGGCGCTGA
NM_000156.6:c.392-52_392-40delinsGGTGAGGCGCTGA MANE Select NP_000147.1:n.392-52_392-40delinsGGTGAGGCGCTGA
NM_138924.3:c.392-52_392-40delinsGGTGAGGCGCTGA NP_620279.1:n.392-52_392-40delinsGGTGAGGCGCTGA
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