Canonical Allele Identifier: CA2499225403
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1076411
ClinVar RCV Id: RCV001390318
dbSNP Id: rs2144636856
gnomAD v4: 19-1399171-AGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399173_1399174del , CM000681.2:g.1399173_1399174del GRCh38
NC_000019.9:g.1399172_1399173del , CM000681.1:g.1399172_1399173del GRCh37
NC_000019.8:g.1350172_1350173del NCBI36
NG_009785.1:g.7381_7382del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.414_415del MANE Select ENSP00000252288.1:p.Ser140GlyfsTer?
ENST00000447102.8:c.414_415del ENSP00000403536.2:p.Ser140GlyfsTer?
ENST00000591788.3:c.97_98del
ENST00000640164.1:n.247_248del
ENST00000640762.1:c.345_346del ENSP00000492031.1:p.Ser117GlyfsTer?
ENST00000252288.6:c.414_415del ENSP00000252288.1:p.Ser140GlyfsTer?
ENST00000447102.7:c.414_415del ENSP00000403536.2:p.Ser140GlyfsTer?
ENST00000591788.2:c.99_100del ENSP00000466341.2:p.Ser35GlyfsTer?
NM_000156.5:c.414_415del NP_000147.1:p.Ser140GlyfsTer?
NM_138924.2:c.414_415del NP_620279.1:p.Ser140GlyfsTer?
NM_000156.6:c.414_415del MANE Select NP_000147.1:p.Ser140GlyfsTer?
NM_138924.3:c.414_415del NP_620279.1:p.Ser140GlyfsTer?
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