Canonical Allele Identifier: CA2697555587
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2746625
ClinVar RCV Id: RCV003587621
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399210_1399211del , CM000681.2:g.1399210_1399211del GRCh38
NC_000019.9:g.1399209_1399210del , CM000681.1:g.1399209_1399210del GRCh37
NC_000019.8:g.1350209_1350210del NCBI36
NG_009785.1:g.7344_7345del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-15_392-14del MANE Select ENSP00000252288.1:n.392-15_392-14del
ENST00000447102.8:c.392-15_392-14del ENSP00000403536.2:n.392-15_392-14del
ENST00000591788.3:c.75-15_75-14del
ENST00000640164.1:n.225-15_225-14del
ENST00000640762.1:c.323-15_323-14del ENSP00000492031.1:n.323-15_323-14del
ENST00000252288.6:c.392-15_392-14del ENSP00000252288.1:n.392-15_392-14del
ENST00000447102.7:c.392-15_392-14del ENSP00000403536.2:n.392-15_392-14del
ENST00000591788.2:c.77-15_77-14del ENSP00000466341.2:n.77-15_77-14del
NM_000156.5:c.392-15_392-14del NP_000147.1:n.392-15_392-14del
NM_138924.2:c.392-15_392-14del NP_620279.1:n.392-15_392-14del
NM_000156.6:c.392-15_392-14del MANE Select NP_000147.1:n.392-15_392-14del
NM_138924.3:c.392-15_392-14del NP_620279.1:n.392-15_392-14del
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