Canonical Allele Identifier: CA2840515372

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399805_1399806del , CM000681.2:g.1399805_1399806del	GRCh38
NC_000019.9:g.1399804_1399805del , CM000681.1:g.1399804_1399805del	GRCh37
NC_000019.8:g.1350804_1350805del	NCBI36
NG_009785.1:g.6748_6749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.314_315del MANE Select	ENSP00000252288.1:p.Arg105ProfsTer21
ENST00000447102.8:c.314_315del	ENSP00000403536.2:p.Arg105ProfsTer21
ENST00000640762.1:c.245_246del	ENSP00000492031.1:p.Arg82ProfsTer21
ENST00000252288.6:c.314_315del	ENSP00000252288.1:p.Arg105ProfsTer21
ENST00000447102.7:c.314_315del	ENSP00000403536.2:p.Arg105ProfsTer21
NM_000156.5:c.314_315del	NP_000147.1:p.Arg105ProfsTer21
NM_138924.2:c.314_315del	NP_620279.1:p.Arg105ProfsTer21
NM_000156.6:c.314_315del MANE Select	NP_000147.1:p.Arg105ProfsTer21
NM_138924.3:c.314_315del	NP_620279.1:p.Arg105ProfsTer21