Canonical Allele Identifier: CA2573155788

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1452336
• ClinVar RCV Id: RCV001999757
• dbSNP Id: rs2144636455

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399015_1399021del , CM000681.2:g.1399015_1399021del	GRCh38
NC_000019.9:g.1399014_1399020del , CM000681.1:g.1399014_1399020del	GRCh37
NC_000019.8:g.1350014_1350020del	NCBI36
NG_009785.1:g.7538_7544del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.470_476del MANE Select	ENSP00000252288.1:p.Phe157CysfsTer2
ENST00000447102.8:c.470_476del	ENSP00000403536.2:p.Phe157CysfsTer2
ENST00000591788.3:c.153_159del
ENST00000640164.1:n.303_309del
ENST00000640762.1:c.401_407del	ENSP00000492031.1:p.Phe134CysfsTer2
ENST00000252288.6:c.470_476del	ENSP00000252288.1:p.Phe157CysfsTer2
ENST00000447102.7:c.470_476del	ENSP00000403536.2:p.Phe157CysfsTer2
ENST00000591788.2:c.155_161del	ENSP00000466341.2:p.Phe52CysfsTer2
NM_000156.5:c.470_476del	NP_000147.1:p.Phe157CysfsTer2
NM_138924.2:c.470_476del	NP_620279.1:p.Phe157CysfsTer2
NM_000156.6:c.470_476del MANE Select	NP_000147.1:p.Phe157CysfsTer2
NM_138924.3:c.470_476del	NP_620279.1:p.Phe157CysfsTer2