Canonical Allele Identifier: CA2508541639

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399742_1399759del , CM000681.2:g.1399742_1399759del	GRCh38
NC_000019.9:g.1399741_1399758del , CM000681.1:g.1399741_1399758del	GRCh37
NC_000019.8:g.1350741_1350758del	NCBI36
NG_009785.1:g.6799_6816del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+38_327+55del MANE Select	ENSP00000252288.1:n.327+38_327+55del
ENST00000447102.8:c.327+38_327+55del	ENSP00000403536.2:n.327+38_327+55del
ENST00000591788.3:c.10+38_10+55del
ENST00000640762.1:c.258+38_258+55del	ENSP00000492031.1:n.258+38_258+55del
ENST00000252288.6:c.327+38_327+55del	ENSP00000252288.1:n.327+38_327+55del
ENST00000447102.7:c.327+38_327+55del	ENSP00000403536.2:n.327+38_327+55del
ENST00000591788.2:c.12+38_12+55del	ENSP00000466341.2:n.12+38_12+55del
NM_000156.5:c.327+38_327+55del	NP_000147.1:n.327+38_327+55del
NM_138924.2:c.327+38_327+55del	NP_620279.1:n.327+38_327+55del
NM_000156.6:c.327+38_327+55del MANE Select	NP_000147.1:n.327+38_327+55del
NM_138924.3:c.327+38_327+55del	NP_620279.1:n.327+38_327+55del