Canonical Allele Identifier: CA2317699176

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399253_1399263delinsTCACCCGGCTC , CM000681.2:g.1399253_1399263delinsTCACCCGGCTC	GRCh38
NC_000019.9:g.1399252_1399262delinsTCACCCGGCTC , CM000681.1:g.1399252_1399262delinsTCACCCGGCTC	GRCh37
NC_000019.8:g.1350252_1350262delinsTCACCCGGCTC	NCBI36
NG_009785.1:g.7291_7301delinsGAGCCGGGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.392-68_392-58delinsGAGCCGGGTGA MANE Select	ENSP00000252288.1:n.392-68_392-58delinsGAGCCGGGTGA
ENST00000447102.8:c.392-68_392-58delinsGAGCCGGGTGA	ENSP00000403536.2:n.392-68_392-58delinsGAGCCGGGTGA
ENST00000591788.3:c.75-68_75-58delinsGAGCCGGGTGA
ENST00000640164.1:n.225-68_225-58delinsGAGCCGGGTGA
ENST00000640762.1:c.323-68_323-58delinsGAGCCGGGTGA	ENSP00000492031.1:n.323-68_323-58delinsGAGCCGGGTGA
ENST00000252288.6:c.392-68_392-58delinsGAGCCGGGTGA	ENSP00000252288.1:n.392-68_392-58delinsGAGCCGGGTGA
ENST00000447102.7:c.392-68_392-58delinsGAGCCGGGTGA	ENSP00000403536.2:n.392-68_392-58delinsGAGCCGGGTGA
ENST00000591788.2:c.77-68_77-58delinsGAGCCGGGTGA	ENSP00000466341.2:n.77-68_77-58delinsGAGCCGGGTGA
NM_000156.5:c.392-68_392-58delinsGAGCCGGGTGA	NP_000147.1:n.392-68_392-58delinsGAGCCGGGTGA
NM_138924.2:c.392-68_392-58delinsGAGCCGGGTGA	NP_620279.1:n.392-68_392-58delinsGAGCCGGGTGA
NM_000156.6:c.392-68_392-58delinsGAGCCGGGTGA MANE Select	NP_000147.1:n.392-68_392-58delinsGAGCCGGGTGA
NM_138924.3:c.392-68_392-58delinsGAGCCGGGTGA	NP_620279.1:n.392-68_392-58delinsGAGCCGGGTGA