Canonical Allele Identifier: CA2840515341

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398809del , CM000681.2:g.1398809del	GRCh38
NC_000019.9:g.1398808del , CM000681.1:g.1398808del	GRCh37
NC_000019.8:g.1349808del	NCBI36
NG_009785.1:g.7749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.570+111del MANE Select	ENSP00000252288.1:n.570+111del
ENST00000447102.8:c.681del	ENSP00000403536.2:p.Trp228GlyfsTer10
ENST00000591788.3:c.254-58del
ENST00000640164.1:n.403+111del
ENST00000640762.1:c.501+111del	ENSP00000492031.1:n.501+111del
ENST00000252288.6:c.570+111del	ENSP00000252288.1:n.570+111del
ENST00000447102.7:c.681del	ENSP00000403536.2:p.Trp228GlyfsTer10
ENST00000591788.2:c.256-58del	ENSP00000466341.2:n.256-58del
NM_000156.5:c.570+111del	NP_000147.1:n.570+111del
NM_138924.2:c.681del	NP_620279.1:p.Trp228GlyfsTer10
NM_000156.6:c.570+111del MANE Select	NP_000147.1:n.570+111del
NM_138924.3:c.681del	NP_620279.1:p.Trp228GlyfsTer10