Canonical Allele Identifier: CA2580096066

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1705080
• ClinVar RCV Id: RCV002283405 ; RCV003586325

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399012del , CM000681.2:g.1399012del	GRCh38
NC_000019.9:g.1399011del , CM000681.1:g.1399011del	GRCh37
NC_000019.8:g.1350011del	NCBI36
NG_009785.1:g.7543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.475del MANE Select	ENSP00000252288.1:p.Leu159CysfsTer2
ENST00000447102.8:c.475del	ENSP00000403536.2:p.Leu159CysfsTer2
ENST00000591788.3:c.158del
ENST00000640164.1:n.308del
ENST00000640762.1:c.406del	ENSP00000492031.1:p.Leu136CysfsTer2
ENST00000252288.6:c.475del	ENSP00000252288.1:p.Leu159CysfsTer2
ENST00000447102.7:c.475del	ENSP00000403536.2:p.Leu159CysfsTer2
ENST00000591788.2:c.160del	ENSP00000466341.2:p.Leu54CysfsTer2
NM_000156.5:c.475del	NP_000147.1:p.Leu159CysfsTer2
NM_138924.2:c.475del	NP_620279.1:p.Leu159CysfsTer2
NM_000156.6:c.475del MANE Select	NP_000147.1:p.Leu159CysfsTer2
NM_138924.3:c.475del	NP_620279.1:p.Leu159CysfsTer2