Canonical Allele Identifier: CA992513703
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2689111
ClinVar RCV Id: RCV003486081
dbSNP Id: rs1736323141
gnomAD v3: 19-1399160-TCTC-T
gnomAD v4: 19-1399160-TCTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399165_1399167del , CM000681.2:g.1399165_1399167del GRCh38
NC_000019.9:g.1399164_1399166del , CM000681.1:g.1399164_1399166del GRCh37
NC_000019.8:g.1350164_1350166del NCBI36
NG_009785.1:g.7391_7393del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.424_426del MANE Select ENSP00000252288.1:p.Glu142del
ENST00000447102.8:c.424_426del ENSP00000403536.2:p.Glu142del
ENST00000591788.3:c.107_109del
ENST00000640164.1:n.257_259del
ENST00000640762.1:c.355_357del ENSP00000492031.1:p.Glu119del
ENST00000252288.6:c.424_426del ENSP00000252288.1:p.Glu142del
ENST00000447102.7:c.424_426del ENSP00000403536.2:p.Glu142del
ENST00000591788.2:c.109_111del ENSP00000466341.2:p.Glu37del
NM_000156.5:c.424_426del NP_000147.1:p.Glu142del
NM_138924.2:c.424_426del NP_620279.1:p.Glu142del
NM_000156.6:c.424_426del MANE Select NP_000147.1:p.Glu142del
NM_138924.3:c.424_426del NP_620279.1:p.Glu142del
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