Canonical Allele Identifier: CA2317699486

Gene: GAMT

Linked Data

• dbSNP Id: rs2082622588

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399787_1399788insCG , CM000681.2:g.1399787_1399788insCG	GRCh38
NC_000019.9:g.1399786_1399787insCG , CM000681.1:g.1399786_1399787insCG	GRCh37
NC_000019.8:g.1350786_1350787insCG	NCBI36
NG_009785.1:g.6767_6768insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+6_327+7insGC MANE Select	ENSP00000252288.1:n.327+6_327+7insGC
ENST00000447102.8:c.327+6_327+7insGC	ENSP00000403536.2:n.327+6_327+7insGC
ENST00000591788.3:c.10+6_10+7insGC
ENST00000640762.1:c.258+6_258+7insGC	ENSP00000492031.1:n.258+6_258+7insGC
ENST00000252288.6:c.327+6_327+7insGC	ENSP00000252288.1:n.327+6_327+7insGC
ENST00000447102.7:c.327+6_327+7insGC	ENSP00000403536.2:n.327+6_327+7insGC
ENST00000591788.2:c.12+6_12+7insGC	ENSP00000466341.2:n.12+6_12+7insGC
NM_000156.5:c.327+6_327+7insGC	NP_000147.1:n.327+6_327+7insGC
NM_138924.2:c.327+6_327+7insGC	NP_620279.1:n.327+6_327+7insGC
NM_000156.6:c.327+6_327+7insGC MANE Select	NP_000147.1:n.327+6_327+7insGC
NM_138924.3:c.327+6_327+7insGC	NP_620279.1:n.327+6_327+7insGC