Canonical Allele Identifier: CA2582641066
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399017-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399019del , CM000681.2:g.1399019del GRCh38
NC_000019.9:g.1399018del , CM000681.1:g.1399018del GRCh37
NC_000019.8:g.1350018del NCBI36
NG_009785.1:g.7536del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.468del MANE Select ENSP00000252288.1:p.Arg158AlafsTer3
ENST00000447102.8:c.468del ENSP00000403536.2:p.Arg158AlafsTer3
ENST00000591788.3:c.151del
ENST00000640164.1:n.301del
ENST00000640762.1:c.399del ENSP00000492031.1:p.Arg135AlafsTer3
ENST00000252288.6:c.468del ENSP00000252288.1:p.Arg158AlafsTer3
ENST00000447102.7:c.468del ENSP00000403536.2:p.Arg158AlafsTer3
ENST00000591788.2:c.153del ENSP00000466341.2:p.Arg53AlafsTer3
NM_000156.5:c.468del NP_000147.1:p.Arg158AlafsTer3
NM_138924.2:c.468del NP_620279.1:p.Arg158AlafsTer3
NM_000156.6:c.468del MANE Select NP_000147.1:p.Arg158AlafsTer3
NM_138924.3:c.468del NP_620279.1:p.Arg158AlafsTer3
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