Canonical Allele Identifier: CA2831039496
Gene: ALDOB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101428484_101428487del , CM000671.2:g.101428484_101428487del GRCh38
NC_000009.11:g.104190766_104190769del , CM000671.1:g.104190766_104190769del GRCh37
NC_000009.10:g.103230587_103230590del NCBI36
NG_012387.1:g.12297_12300del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.364_367del MANE Select ENSP00000497767.1:p.Glu122ProfsTer30
ENST00000648064.1:c.364_367del ENSP00000497990.1:p.Glu122ProfsTer30
ENST00000648758.1:c.364_367del ENSP00000497731.1:p.Glu122ProfsTer30
ENST00000649902.1:c.364_367del ENSP00000497216.1:p.Glu122ProfsTer30
ENST00000374855.8:c.364_367del ENSP00000363988.4:p.Glu122ProfsTer30
ENST00000468981.3:n.67+1325_67+1328del
ENST00000616752.1:c.364_367del ENSP00000481363.1:p.Glu122ProfsTer30
NM_000035.3:c.364_367del NP_000026.2:p.Glu122ProfsTer30
NM_000035.4:c.364_367del MANE Select NP_000026.2:p.Glu122ProfsTer30
Search 100 bp 5'
Search 100 bp 3'