Canonical Allele Identifier: CA2582641447

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399759-GGGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399760_1399764del , CM000681.2:g.1399760_1399764del	GRCh38
NC_000019.9:g.1399759_1399763del , CM000681.1:g.1399759_1399763del	GRCh37
NC_000019.8:g.1350759_1350763del	NCBI36
NG_009785.1:g.6790_6794del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+29_327+33del MANE Select	ENSP00000252288.1:n.327+29_327+33del
ENST00000447102.8:c.327+29_327+33del	ENSP00000403536.2:n.327+29_327+33del
ENST00000591788.3:c.10+29_10+33del
ENST00000640762.1:c.258+29_258+33del	ENSP00000492031.1:n.258+29_258+33del
ENST00000252288.6:c.327+29_327+33del	ENSP00000252288.1:n.327+29_327+33del
ENST00000447102.7:c.327+29_327+33del	ENSP00000403536.2:n.327+29_327+33del
ENST00000591788.2:c.12+29_12+33del	ENSP00000466341.2:n.12+29_12+33del
NM_000156.5:c.327+29_327+33del	NP_000147.1:n.327+29_327+33del
NM_138924.2:c.327+29_327+33del	NP_620279.1:n.327+29_327+33del
NM_000156.6:c.327+29_327+33del MANE Select	NP_000147.1:n.327+29_327+33del
NM_138924.3:c.327+29_327+33del	NP_620279.1:n.327+29_327+33del