Canonical Allele Identifier: CA2582641063

Gene: GAMT

Linked Data

• gnomAD v4: 19-1398760-AAGGACTTTGATTTCTAAATGAACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398763_1398786del , CM000681.2:g.1398763_1398786del	GRCh38
NC_000019.9:g.1398762_1398785del , CM000681.1:g.1398762_1398785del	GRCh37
NC_000019.8:g.1349762_1349785del	NCBI36
NG_009785.1:g.7770_7793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.570+132_570+155del MANE Select	ENSP00000252288.1:n.570+132_570+155del
ENST00000447102.8:c.702_725del	ENSP00000403536.2:p.Val235_Leu242del
ENST00000591788.3:c.254-37_254-14del
ENST00000640164.1:n.403+132_403+155del
ENST00000640762.1:c.501+132_501+155del	ENSP00000492031.1:n.501+132_501+155del
ENST00000252288.6:c.570+132_570+155del	ENSP00000252288.1:n.570+132_570+155del
ENST00000447102.7:c.702_725del	ENSP00000403536.2:p.Val235_Leu242del
ENST00000591788.2:c.256-37_256-14del	ENSP00000466341.2:n.256-37_256-14del
NM_000156.5:c.570+132_570+155del	NP_000147.1:n.570+132_570+155del
NM_138924.2:c.702_725del	NP_620279.1:p.Val235_Leu242del
NM_000156.6:c.570+132_570+155del MANE Select	NP_000147.1:n.570+132_570+155del
NM_138924.3:c.702_725del	NP_620279.1:p.Val235_Leu242del