Canonical Allele Identifier: CA2317699026
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs2082617150
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398990_1398992del , CM000681.2:g.1398990_1398992del GRCh38
NC_000019.9:g.1398989_1398991del , CM000681.1:g.1398989_1398991del GRCh37
NC_000019.8:g.1349989_1349991del NCBI36
NG_009785.1:g.7564_7566del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.496_498del MANE Select ENSP00000252288.1:p.Leu166del
ENST00000447102.8:c.496_498del ENSP00000403536.2:p.Leu166del
ENST00000591788.3:c.179_181del
ENST00000640164.1:n.329_331del
ENST00000640762.1:c.427_429del ENSP00000492031.1:p.Leu143del
ENST00000252288.6:c.496_498del ENSP00000252288.1:p.Leu166del
ENST00000447102.7:c.496_498del ENSP00000403536.2:p.Leu166del
ENST00000591788.2:c.181_183del ENSP00000466341.2:p.Leu61del
NM_000156.5:c.496_498del NP_000147.1:p.Leu166del
NM_138924.2:c.496_498del NP_620279.1:p.Leu166del
NM_000156.6:c.496_498del MANE Select NP_000147.1:p.Leu166del
NM_138924.3:c.496_498del NP_620279.1:p.Leu166del
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