Canonical Allele Identifier: CA1127398500

Gene: ALDOB

Linked Data

• dbSNP Id: rs1831184576
• gnomAD v3: 9-101429626-TGAC-T
• gnomAD v4: 9-101429626-TGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101429629_101429631del , CM000671.2:g.101429629_101429631del	GRCh38
NC_000009.11:g.104191911_104191913del , CM000671.1:g.104191911_104191913del	GRCh37
NC_000009.10:g.103231732_103231734del	NCBI36
NG_012387.1:g.11152_11154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.324+126_324+128del MANE Select	ENSP00000497767.1:n.324+126_324+128del
ENST00000648064.1:c.324+126_324+128del	ENSP00000497990.1:n.324+126_324+128del
ENST00000648758.1:c.324+126_324+128del	ENSP00000497731.1:n.324+126_324+128del
ENST00000648906.1:n.620_622del
ENST00000649902.1:c.324+126_324+128del	ENSP00000497216.1:n.324+126_324+128del
ENST00000650613.1:n.526_528del
ENST00000374855.8:c.324+126_324+128del	ENSP00000363988.4:n.324+126_324+128del
ENST00000468981.3:n.67+180_67+182del
ENST00000616752.1:c.324+126_324+128del	ENSP00000481363.1:n.324+126_324+128del
NM_000035.3:c.324+126_324+128del	NP_000026.2:n.324+126_324+128del
NM_000035.4:c.324+126_324+128del MANE Select	NP_000026.2:n.324+126_324+128del