Canonical Allele Identifier: CA2695223158

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399796del , CM000681.2:g.1399796del	GRCh38
NC_000019.9:g.1399795del , CM000681.1:g.1399795del	GRCh37
NC_000019.8:g.1350795del	NCBI36
NG_009785.1:g.6758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.324del MANE Select	ENSP00000252288.1:p.His108GlnfsTer6
ENST00000447102.8:c.324del	ENSP00000403536.2:p.His108GlnfsTer6
ENST00000591788.3:c.7del
ENST00000640762.1:c.255del	ENSP00000492031.1:p.His85GlnfsTer6
ENST00000252288.6:c.324del	ENSP00000252288.1:p.His108GlnfsTer6
ENST00000447102.7:c.324del	ENSP00000403536.2:p.His108GlnfsTer6
ENST00000591788.2:c.9del	ENSP00000466341.2:p.His3GlnfsTer6
NM_000156.5:c.324del	NP_000147.1:p.His108GlnfsTer6
NM_138924.2:c.324del	NP_620279.1:p.His108GlnfsTer6
NM_000156.6:c.324del MANE Select	NP_000147.1:p.His108GlnfsTer6
NM_138924.3:c.324del	NP_620279.1:p.His108GlnfsTer6