Canonical Allele Identifier: CA2582641914
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401299-TGGA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401305_1401307del , CM000681.2:g.1401305_1401307del GRCh38
NC_000019.9:g.1401304_1401306del , CM000681.1:g.1401304_1401306del GRCh37
NC_000019.8:g.1352304_1352306del NCBI36
NG_009785.1:g.5252_5254del

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.175_177del MANE Select ENSP00000252288.1:p.Ser59del
ENST00000447102.8:c.175_177del ENSP00000403536.2:p.Ser59del
ENST00000640762.1:c.112+63_112+65del ENSP00000492031.1:n.112+63_112+65del
ENST00000252288.6:c.175_177del ENSP00000252288.1:p.Ser59del
ENST00000447102.7:c.175_177del ENSP00000403536.2:p.Ser59del
NM_000156.5:c.175_177del NP_000147.1:p.Ser59del
NM_138924.2:c.175_177del NP_620279.1:p.Ser59del
NM_000156.6:c.175_177del MANE Select NP_000147.1:p.Ser59del
NM_138924.3:c.175_177del NP_620279.1:p.Ser59del
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