Canonical Allele Identifier: CA2582641919
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401381-CGT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401384_1401385del , CM000681.2:g.1401384_1401385del GRCh38
NC_000019.9:g.1401383_1401384del , CM000681.1:g.1401383_1401384del GRCh37
NC_000019.8:g.1352383_1352384del NCBI36
NG_009785.1:g.5171_5172del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.94_95del MANE Select ENSP00000252288.1:p.Thr32AlafsTer?
ENST00000447102.8:c.94_95del ENSP00000403536.2:p.Thr32AlafsTer?
ENST00000640762.1:c.94_95del ENSP00000492031.1:p.Thr32AlafsTer29
ENST00000252288.6:c.94_95del ENSP00000252288.1:p.Thr32AlafsTer?
ENST00000447102.7:c.94_95del ENSP00000403536.2:p.Thr32AlafsTer?
NM_000156.5:c.94_95del NP_000147.1:p.Thr32AlafsTer?
NM_138924.2:c.94_95del NP_620279.1:p.Thr32AlafsTer?
NM_000156.6:c.94_95del MANE Select NP_000147.1:p.Thr32AlafsTer?
NM_138924.3:c.94_95del NP_620279.1:p.Thr32AlafsTer?
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