Canonical Allele Identifier: CA2582641493
Gene: GAMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399837_1399840del , CM000681.2:g.1399837_1399840del GRCh38
NC_000019.9:g.1399836_1399839del , CM000681.1:g.1399836_1399839del GRCh37
NC_000019.8:g.1350836_1350839del NCBI36
NG_009785.1:g.6714_6717del

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.280_283del MANE Select ENSP00000252288.1:p.Gly94SerfsTer19
ENST00000447102.8:c.280_283del ENSP00000403536.2:p.Gly94SerfsTer19
ENST00000640762.1:c.211_214del ENSP00000492031.1:p.Gly71SerfsTer19
ENST00000252288.6:c.280_283del ENSP00000252288.1:p.Gly94SerfsTer19
ENST00000447102.7:c.280_283del ENSP00000403536.2:p.Gly94SerfsTer19
NM_000156.5:c.280_283del NP_000147.1:p.Gly94SerfsTer19
NM_138924.2:c.280_283del NP_620279.1:p.Gly94SerfsTer19
NM_000156.6:c.280_283del MANE Select NP_000147.1:p.Gly94SerfsTer19
NM_138924.3:c.280_283del NP_620279.1:p.Gly94SerfsTer19