Canonical Allele Identifier: CA2317699169

Gene: GAMT

Linked Data

• dbSNP Id: rs2082619067

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399240_1399251del , CM000681.2:g.1399240_1399251del	GRCh38
NC_000019.9:g.1399239_1399250del , CM000681.1:g.1399239_1399250del	GRCh37
NC_000019.8:g.1350239_1350250del	NCBI36
NG_009785.1:g.7307_7318del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.392-52_392-41del MANE Select	ENSP00000252288.1:n.392-52_392-41del
ENST00000447102.8:c.392-52_392-41del	ENSP00000403536.2:n.392-52_392-41del
ENST00000591788.3:c.75-52_75-41del
ENST00000640164.1:n.225-52_225-41del
ENST00000640762.1:c.323-52_323-41del	ENSP00000492031.1:n.323-52_323-41del
ENST00000252288.6:c.392-52_392-41del	ENSP00000252288.1:n.392-52_392-41del
ENST00000447102.7:c.392-52_392-41del	ENSP00000403536.2:n.392-52_392-41del
ENST00000591788.2:c.77-52_77-41del	ENSP00000466341.2:n.77-52_77-41del
NM_000156.5:c.392-52_392-41del	NP_000147.1:n.392-52_392-41del
NM_138924.2:c.392-52_392-41del	NP_620279.1:n.392-52_392-41del
NM_000156.6:c.392-52_392-41del MANE Select	NP_000147.1:n.392-52_392-41del
NM_138924.3:c.392-52_392-41del	NP_620279.1:n.392-52_392-41del