Canonical Allele Identifier: CA2582641455

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399765-CCTGGAGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399767_1399774del , CM000681.2:g.1399767_1399774del	GRCh38
NC_000019.9:g.1399766_1399773del , CM000681.1:g.1399766_1399773del	GRCh37
NC_000019.8:g.1350766_1350773del	NCBI36
NG_009785.1:g.6781_6788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+20_327+27del MANE Select	ENSP00000252288.1:n.327+20_327+27del
ENST00000447102.8:c.327+20_327+27del	ENSP00000403536.2:n.327+20_327+27del
ENST00000591788.3:c.10+20_10+27del
ENST00000640762.1:c.258+20_258+27del	ENSP00000492031.1:n.258+20_258+27del
ENST00000252288.6:c.327+20_327+27del	ENSP00000252288.1:n.327+20_327+27del
ENST00000447102.7:c.327+20_327+27del	ENSP00000403536.2:n.327+20_327+27del
ENST00000591788.2:c.12+20_12+27del	ENSP00000466341.2:n.12+20_12+27del
NM_000156.5:c.327+20_327+27del	NP_000147.1:n.327+20_327+27del
NM_138924.2:c.327+20_327+27del	NP_620279.1:n.327+20_327+27del
NM_000156.6:c.327+20_327+27del MANE Select	NP_000147.1:n.327+20_327+27del
NM_138924.3:c.327+20_327+27del	NP_620279.1:n.327+20_327+27del