Canonical Allele Identifier: CA2317699002

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398950_1398953delinsTTCA , CM000681.2:g.1398950_1398953delinsTTCA	GRCh38
NC_000019.9:g.1398949_1398952delinsTTCA , CM000681.1:g.1398949_1398952delinsTTCA	GRCh37
NC_000019.8:g.1349949_1349952delinsTTCA	NCBI36
NG_009785.1:g.7601_7604delinsTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.533_536delinsTGAA MANE Select	ENSP00000252288.1:p.Met178=
ENST00000447102.8:c.533_536delinsTGAA	ENSP00000403536.2:p.Met178=
ENST00000591788.3:c.216_219delinsTGAA
ENST00000640164.1:n.366_369delinsTGAA
ENST00000640762.1:c.464_467delinsTGAA	ENSP00000492031.1:p.Met155=
ENST00000252288.6:c.533_536delinsTGAA	ENSP00000252288.1:p.Met178=
ENST00000447102.7:c.533_536delinsTGAA	ENSP00000403536.2:p.Met178=
ENST00000591788.2:c.218_221delinsTGAA	ENSP00000466341.2:p.Met73=
NM_000156.5:c.533_536delinsTGAA	NP_000147.1:p.Met178=
NM_138924.2:c.533_536delinsTGAA	NP_620279.1:p.Met178=
NM_000156.6:c.533_536delinsTGAA MANE Select	NP_000147.1:p.Met178=
NM_138924.3:c.533_536delinsTGAA	NP_620279.1:p.Met178=