Canonical Allele Identifier: CA2739276352
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2831012
ClinVar RCV Id: RCV003747228
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399141_1399145del , CM000681.2:g.1399141_1399145del GRCh38
NC_000019.9:g.1399140_1399144del , CM000681.1:g.1399140_1399144del GRCh37
NC_000019.8:g.1350140_1350144del NCBI36
NG_009785.1:g.7411_7415del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.444_448del MANE Select ENSP00000252288.1:p.Phe149LeufsTer?
ENST00000447102.8:c.444_448del ENSP00000403536.2:p.Phe149LeufsTer?
ENST00000591788.3:c.127_131del
ENST00000640164.1:n.277_281del
ENST00000640762.1:c.375_379del ENSP00000492031.1:p.Phe126LeufsTer?
ENST00000252288.6:c.444_448del ENSP00000252288.1:p.Phe149LeufsTer?
ENST00000447102.7:c.444_448del ENSP00000403536.2:p.Phe149LeufsTer?
ENST00000591788.2:c.129_133del ENSP00000466341.2:p.Phe44LeufsTer?
NM_000156.5:c.444_448del NP_000147.1:p.Phe149LeufsTer?
NM_138924.2:c.444_448del NP_620279.1:p.Phe149LeufsTer?
NM_000156.6:c.444_448del MANE Select NP_000147.1:p.Phe149LeufsTer?
NM_138924.3:c.444_448del NP_620279.1:p.Phe149LeufsTer?
Search 100 bp 5'
Search 100 bp 3'