Canonical Allele Identifier: CA2317699233
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs2082619769
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399351del , CM000681.2:g.1399351del GRCh38
NC_000019.9:g.1399350del , CM000681.1:g.1399350del GRCh37
NC_000019.8:g.1350350del NCBI36
NG_009785.1:g.7204del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-155del MANE Select ENSP00000252288.1:n.392-155del
ENST00000447102.8:c.392-155del ENSP00000403536.2:n.392-155del
ENST00000591788.3:c.75-155del
ENST00000640164.1:n.225-155del
ENST00000640762.1:c.323-155del ENSP00000492031.1:n.323-155del
ENST00000252288.6:c.392-155del ENSP00000252288.1:n.392-155del
ENST00000447102.7:c.392-155del ENSP00000403536.2:n.392-155del
ENST00000591788.2:c.77-155del ENSP00000466341.2:n.77-155del
NM_000156.5:c.392-155del NP_000147.1:n.392-155del
NM_138924.2:c.392-155del NP_620279.1:n.392-155del
NM_000156.6:c.392-155del MANE Select NP_000147.1:n.392-155del
NM_138924.3:c.392-155del NP_620279.1:n.392-155del
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