Canonical Allele Identifier: CA2697555584
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2743645
ClinVar RCV Id: RCV003587559
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398977_1398991del , CM000681.2:g.1398977_1398991del GRCh38
NC_000019.9:g.1398976_1398990del , CM000681.1:g.1398976_1398990del GRCh37
NC_000019.8:g.1349976_1349990del NCBI36
NG_009785.1:g.7571_7585del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.503_517del MANE Select ENSP00000252288.1:p.Tyr168_Thr172del
ENST00000447102.8:c.503_517del ENSP00000403536.2:p.Tyr168_Thr172del
ENST00000591788.3:c.186_200del
ENST00000640164.1:n.336_350del
ENST00000640762.1:c.434_448del ENSP00000492031.1:p.Tyr145_Thr149del
ENST00000252288.6:c.503_517del ENSP00000252288.1:p.Tyr168_Thr172del
ENST00000447102.7:c.503_517del ENSP00000403536.2:p.Tyr168_Thr172del
ENST00000591788.2:c.188_202del ENSP00000466341.2:p.Tyr63_Thr67del
NM_000156.5:c.503_517del NP_000147.1:p.Tyr168_Thr172del
NM_138924.2:c.503_517del NP_620279.1:p.Tyr168_Thr172del
NM_000156.6:c.503_517del MANE Select NP_000147.1:p.Tyr168_Thr172del
NM_138924.3:c.503_517del NP_620279.1:p.Tyr168_Thr172del
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