Canonical Allele Identifier: CA2582641915

Gene: GAMT

Linked Data

• gnomAD v4: 19-1401328-ATATAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401329_1401333del , CM000681.2:g.1401329_1401333del	GRCh38
NC_000019.9:g.1401328_1401332del , CM000681.1:g.1401328_1401332del	GRCh37
NC_000019.8:g.1352328_1352332del	NCBI36
NG_009785.1:g.5221_5225del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.144_148del MANE Select	ENSP00000252288.1:p.Tyr49AlafsTer?
ENST00000447102.8:c.144_148del	ENSP00000403536.2:p.Tyr49AlafsTer?
ENST00000640762.1:c.112+32_112+36del	ENSP00000492031.1:n.112+32_112+36del
ENST00000252288.6:c.144_148del	ENSP00000252288.1:p.Tyr49AlafsTer?
ENST00000447102.7:c.144_148del	ENSP00000403536.2:p.Tyr49AlafsTer?
NM_000156.5:c.144_148del	NP_000147.1:p.Tyr49AlafsTer?
NM_138924.2:c.144_148del	NP_620279.1:p.Tyr49AlafsTer?
NM_000156.6:c.144_148del MANE Select	NP_000147.1:p.Tyr49AlafsTer?
NM_138924.3:c.144_148del	NP_620279.1:p.Tyr49AlafsTer?