Canonical Allele Identifier: CA2576548734

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399950-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399951_1399952del , CM000681.2:g.1399951_1399952del	GRCh38
NC_000019.9:g.1399950_1399951del , CM000681.1:g.1399950_1399951del	GRCh37
NC_000019.8:g.1350950_1350951del	NCBI36
NG_009785.1:g.6602_6603del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.182-14_182-13del MANE Select	ENSP00000252288.1:n.182-14_182-13del
ENST00000447102.8:c.182-14_182-13del	ENSP00000403536.2:n.182-14_182-13del
ENST00000640762.1:c.113-14_113-13del	ENSP00000492031.1:n.113-14_113-13del
ENST00000252288.6:c.182-14_182-13del	ENSP00000252288.1:n.182-14_182-13del
ENST00000447102.7:c.182-14_182-13del	ENSP00000403536.2:n.182-14_182-13del
NM_000156.5:c.182-14_182-13del	NP_000147.1:n.182-14_182-13del
NM_138924.2:c.182-14_182-13del	NP_620279.1:n.182-14_182-13del
NM_000156.6:c.182-14_182-13del MANE Select	NP_000147.1:n.182-14_182-13del
NM_138924.3:c.182-14_182-13del	NP_620279.1:n.182-14_182-13del