Canonical Allele Identifier: CA2317699112
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399142_1399145delinsACTG , CM000681.2:g.1399142_1399145delinsACTG GRCh38
NC_000019.9:g.1399141_1399144delinsACTG , CM000681.1:g.1399141_1399144delinsACTG GRCh37
NC_000019.8:g.1350141_1350144delinsACTG NCBI36
NG_009785.1:g.7409_7412delinsCAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.442_445delinsCAGT MANE Select ENSP00000252288.1:p.Gln148=
ENST00000447102.8:c.442_445delinsCAGT ENSP00000403536.2:p.Gln148=
ENST00000591788.3:c.125_128delinsCAGT
ENST00000640164.1:n.275_278delinsCAGT
ENST00000640762.1:c.373_376delinsCAGT ENSP00000492031.1:p.Gln125=
ENST00000252288.6:c.442_445delinsCAGT ENSP00000252288.1:p.Gln148=
ENST00000447102.7:c.442_445delinsCAGT ENSP00000403536.2:p.Gln148=
ENST00000591788.2:c.127_130delinsCAGT ENSP00000466341.2:p.Gln43=
NM_000156.5:c.442_445delinsCAGT NP_000147.1:p.Gln148=
NM_138924.2:c.442_445delinsCAGT NP_620279.1:p.Gln148=
NM_000156.6:c.442_445delinsCAGT MANE Select NP_000147.1:p.Gln148=
NM_138924.3:c.442_445delinsCAGT NP_620279.1:p.Gln148=
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