Canonical Allele Identifier: CA2840515386
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401357del , CM000681.2:g.1401357del GRCh38
NC_000019.9:g.1401356del , CM000681.1:g.1401356del GRCh37
NC_000019.8:g.1352356del NCBI36
NG_009785.1:g.5198del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.121del MANE Select ENSP00000252288.1:p.Val41Ter
ENST00000447102.8:c.121del ENSP00000403536.2:p.Val41Ter
ENST00000640762.1:c.112+9del ENSP00000492031.1:n.112+9del
ENST00000252288.6:c.121del ENSP00000252288.1:p.Val41Ter
ENST00000447102.7:c.121del ENSP00000403536.2:p.Val41Ter
NM_000156.5:c.121del NP_000147.1:p.Val41Ter
NM_138924.2:c.121del NP_620279.1:p.Val41Ter
NM_000156.6:c.121del MANE Select NP_000147.1:p.Val41Ter
NM_138924.3:c.121del NP_620279.1:p.Val41Ter
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