Canonical Allele Identifier: CA2317699160

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399220_1399232delinsCGGTCAGGGCCGG , CM000681.2:g.1399220_1399232delinsCGGTCAGGGCCGG	GRCh38
NC_000019.9:g.1399219_1399231delinsCGGTCAGGGCCGG , CM000681.1:g.1399219_1399231delinsCGGTCAGGGCCGG	GRCh37
NC_000019.8:g.1350219_1350231delinsCGGTCAGGGCCGG	NCBI36
NG_009785.1:g.7322_7334delinsCCGGCCCTGACCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.392-37_392-25delinsCCGGCCCTGACCG MANE Select	ENSP00000252288.1:n.392-37_392-25delinsCCGGCCCTGACCG
ENST00000447102.8:c.392-37_392-25delinsCCGGCCCTGACCG	ENSP00000403536.2:n.392-37_392-25delinsCCGGCCCTGACCG
ENST00000591788.3:c.75-37_75-25delinsCCGGCCCTGACCG
ENST00000640164.1:n.225-37_225-25delinsCCGGCCCTGACCG
ENST00000640762.1:c.323-37_323-25delinsCCGGCCCTGACCG	ENSP00000492031.1:n.323-37_323-25delinsCCGGCCCTGACCG
ENST00000252288.6:c.392-37_392-25delinsCCGGCCCTGACCG	ENSP00000252288.1:n.392-37_392-25delinsCCGGCCCTGACCG
ENST00000447102.7:c.392-37_392-25delinsCCGGCCCTGACCG	ENSP00000403536.2:n.392-37_392-25delinsCCGGCCCTGACCG
ENST00000591788.2:c.77-37_77-25delinsCCGGCCCTGACCG	ENSP00000466341.2:n.77-37_77-25delinsCCGGCCCTGACCG
NM_000156.5:c.392-37_392-25delinsCCGGCCCTGACCG	NP_000147.1:n.392-37_392-25delinsCCGGCCCTGACCG
NM_138924.2:c.392-37_392-25delinsCCGGCCCTGACCG	NP_620279.1:n.392-37_392-25delinsCCGGCCCTGACCG
NM_000156.6:c.392-37_392-25delinsCCGGCCCTGACCG MANE Select	NP_000147.1:n.392-37_392-25delinsCCGGCCCTGACCG
NM_138924.3:c.392-37_392-25delinsCCGGCCCTGACCG	NP_620279.1:n.392-37_392-25delinsCCGGCCCTGACCG