Canonical Allele Identifier: CA340767
Community Standard Title: NM_000156.6(GAMT):c.299_311dup (p.Arg105GlyfsTer26)
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399811_1399823dup , CM000681.2:g.1399811_1399823dup GRCh38
NC_000019.9:g.1399810_1399822dup , CM000681.1:g.1399810_1399822dup GRCh37
NC_000019.8:g.1350810_1350822dup NCBI36
NG_009785.1:g.6733_6745dup

Transcript Alleles

HGVS Amino-acid Change
NM_000156.6:c.299_311dup MANE Select NP_000147.1:p.Arg105GlyfsTer26
ENST00000252288.8:c.299_311dup MANE Select ENSP00000252288.1:p.Arg105GlyfsTer26
NM_000156.5:c.299_311dup NP_000147.1:p.Arg105GlyfsTer26
NM_138924.2:c.299_311dup NP_620279.1:p.Arg105GlyfsTer26
NM_138924.3:c.299_311dup NP_620279.1:p.Arg105GlyfsTer26
ENST00000252288.6:c.299_311dup ENSP00000252288.1:p.Arg105GlyfsTer26
ENST00000447102.7:c.299_311dup ENSP00000403536.2:p.Arg105GlyfsTer26
ENST00000447102.8:c.299_311dup ENSP00000403536.2:p.Arg105GlyfsTer26
ENST00000640762.1:c.230_242dup ENSP00000492031.1:p.Arg82GlyfsTer26
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