Canonical Allele Identifier: CA2582641065
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1398974-AGGTT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398976_1398979del , CM000681.2:g.1398976_1398979del GRCh38
NC_000019.9:g.1398975_1398978del , CM000681.1:g.1398975_1398978del GRCh37
NC_000019.8:g.1349975_1349978del NCBI36
NG_009785.1:g.7576_7579del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.508_511del MANE Select ENSP00000252288.1:p.Asn170SerfsTer7
ENST00000447102.8:c.508_511del ENSP00000403536.2:p.Asn170SerfsTer7
ENST00000591788.3:c.191_194del
ENST00000640164.1:n.341_344del
ENST00000640762.1:c.439_442del ENSP00000492031.1:p.Asn147SerfsTer7
ENST00000252288.6:c.508_511del ENSP00000252288.1:p.Asn170SerfsTer7
ENST00000447102.7:c.508_511del ENSP00000403536.2:p.Asn170SerfsTer7
ENST00000591788.2:c.193_196del ENSP00000466341.2:p.Asn65SerfsTer7
NM_000156.5:c.508_511del NP_000147.1:p.Asn170SerfsTer7
NM_138924.2:c.508_511del NP_620279.1:p.Asn170SerfsTer7
NM_000156.6:c.508_511del MANE Select NP_000147.1:p.Asn170SerfsTer7
NM_138924.3:c.508_511del NP_620279.1:p.Asn170SerfsTer7
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