Canonical Allele Identifier: CA590045584

Gene: ALDOB

Linked Data

• dbSNP Id: rs1195407418
• gnomAD v2: 9-104189699-G-GA
• gnomAD v3: 9-101427417-G-GA
• gnomAD v4: 9-101427417-G-GA
• MyVariant Identifiers: chr9:g.104189699_104189700insA (hg19) ; chr9:g.101427417_101427418insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101427421dup , CM000671.2:g.101427421dup	GRCh38
NC_000009.11:g.104189703dup , CM000671.1:g.104189703dup	GRCh37
NC_000009.10:g.103229524dup	NCBI36
NG_012387.1:g.13363dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.540+64dup MANE Select	ENSP00000497767.1:n.540+64dup
ENST00000648064.1:c.540+64dup	ENSP00000497990.1:n.540+64dup
ENST00000648758.1:c.540+64dup	ENSP00000497731.1:n.540+64dup
ENST00000649902.1:c.540+64dup	ENSP00000497216.1:n.540+64dup
ENST00000374855.8:c.540+64dup	ENSP00000363988.4:n.540+64dup
ENST00000468981.3:n.68-780dup
ENST00000616752.1:c.540+64dup	ENSP00000481363.1:n.540+64dup
NM_000035.3:c.540+64dup	NP_000026.2:n.540+64dup
NM_000035.4:c.540+64dup MANE Select	NP_000026.2:n.540+64dup