Canonical Allele Identifier: CA2582641473

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399776-TGCGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399777_1399781del , CM000681.2:g.1399777_1399781del	GRCh38
NC_000019.9:g.1399776_1399780del , CM000681.1:g.1399776_1399780del	GRCh37
NC_000019.8:g.1350776_1350780del	NCBI36
NG_009785.1:g.6773_6777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+12_327+16del MANE Select	ENSP00000252288.1:n.327+12_327+16del
ENST00000447102.8:c.327+12_327+16del	ENSP00000403536.2:n.327+12_327+16del
ENST00000591788.3:c.10+12_10+16del
ENST00000640762.1:c.258+12_258+16del	ENSP00000492031.1:n.258+12_258+16del
ENST00000252288.6:c.327+12_327+16del	ENSP00000252288.1:n.327+12_327+16del
ENST00000447102.7:c.327+12_327+16del	ENSP00000403536.2:n.327+12_327+16del
ENST00000591788.2:c.12+12_12+16del	ENSP00000466341.2:n.12+12_12+16del
NM_000156.5:c.327+12_327+16del	NP_000147.1:n.327+12_327+16del
NM_138924.2:c.327+12_327+16del	NP_620279.1:n.327+12_327+16del
NM_000156.6:c.327+12_327+16del MANE Select	NP_000147.1:n.327+12_327+16del
NM_138924.3:c.327+12_327+16del	NP_620279.1:n.327+12_327+16del