Canonical Allele Identifier: CA2317699030
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398994_1398995delinsGC , CM000681.2:g.1398994_1398995delinsGC GRCh38
NC_000019.9:g.1398993_1398994delinsGC , CM000681.1:g.1398993_1398994delinsGC GRCh37
NC_000019.8:g.1349993_1349994delinsGC NCBI36
NG_009785.1:g.7559_7560delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.491_492delinsGC MANE Select ENSP00000252288.1:p.Gly164=
ENST00000447102.8:c.491_492delinsGC ENSP00000403536.2:p.Gly164=
ENST00000591788.3:c.174_175delinsGC
ENST00000640164.1:n.324_325delinsGC
ENST00000640762.1:c.422_423delinsGC ENSP00000492031.1:p.Gly141=
ENST00000252288.6:c.491_492delinsGC ENSP00000252288.1:p.Gly164=
ENST00000447102.7:c.491_492delinsGC ENSP00000403536.2:p.Gly164=
ENST00000591788.2:c.176_177delinsGC ENSP00000466341.2:p.Gly59=
NM_000156.5:c.491_492delinsGC NP_000147.1:p.Gly164=
NM_138924.2:c.491_492delinsGC NP_620279.1:p.Gly164=
NM_000156.6:c.491_492delinsGC MANE Select NP_000147.1:p.Gly164=
NM_138924.3:c.491_492delinsGC NP_620279.1:p.Gly164=
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