Canonical Allele Identifier: CA2582641861
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401266-C-CA
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401266_1401267insA , CM000681.2:g.1401266_1401267insA GRCh38
NC_000019.9:g.1401265_1401266insA , CM000681.1:g.1401265_1401266insA GRCh37
NC_000019.8:g.1352265_1352266insA NCBI36
NG_009785.1:g.5287_5288insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.181+29_181+30insT MANE Select ENSP00000252288.1:n.181+29_181+30insT
ENST00000447102.8:c.181+29_181+30insT ENSP00000403536.2:n.181+29_181+30insT
ENST00000640762.1:c.112+98_112+99insT ENSP00000492031.1:n.112+98_112+99insT
ENST00000252288.6:c.181+29_181+30insT ENSP00000252288.1:n.181+29_181+30insT
ENST00000447102.7:c.181+29_181+30insT ENSP00000403536.2:n.181+29_181+30insT
NM_000156.5:c.181+29_181+30insT NP_000147.1:n.181+29_181+30insT
NM_138924.2:c.181+29_181+30insT NP_620279.1:n.181+29_181+30insT
NM_000156.6:c.181+29_181+30insT MANE Select NP_000147.1:n.181+29_181+30insT
NM_138924.3:c.181+29_181+30insT NP_620279.1:n.181+29_181+30insT
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