Canonical Allele Identifier: CA2317699127
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399160_1399163delinsTCTC , CM000681.2:g.1399160_1399163delinsTCTC GRCh38
NC_000019.9:g.1399159_1399162delinsTCTC , CM000681.1:g.1399159_1399162delinsTCTC GRCh37
NC_000019.8:g.1350159_1350162delinsTCTC NCBI36
NG_009785.1:g.7391_7394delinsGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.424_427delinsGAGA MANE Select ENSP00000252288.1:p.Glu142=
ENST00000447102.8:c.424_427delinsGAGA ENSP00000403536.2:p.Glu142=
ENST00000591788.3:c.107_110delinsGAGA
ENST00000640164.1:n.257_260delinsGAGA
ENST00000640762.1:c.355_358delinsGAGA ENSP00000492031.1:p.Glu119=
ENST00000252288.6:c.424_427delinsGAGA ENSP00000252288.1:p.Glu142=
ENST00000447102.7:c.424_427delinsGAGA ENSP00000403536.2:p.Glu142=
ENST00000591788.2:c.109_112delinsGAGA ENSP00000466341.2:p.Glu37=
NM_000156.5:c.424_427delinsGAGA NP_000147.1:p.Glu142=
NM_138924.2:c.424_427delinsGAGA NP_620279.1:p.Glu142=
NM_000156.6:c.424_427delinsGAGA MANE Select NP_000147.1:p.Glu142=
NM_138924.3:c.424_427delinsGAGA NP_620279.1:p.Glu142=
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