Canonical Allele Identifier: CA16041286
Gene: ALDOB HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.101427602del
GRCh37 chr9:g.104189884del
gnomAD v2:
9:104189883 CT / C
gnomAD v4:
chr9-101427601-CT-C
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar Allele:
357760
ClinVar RCV:
RCV000411375
ClinVar Variation:
371627
dbSNP:
1057517421
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101427604del , CM000671.2:g.101427604del GRCh38
NC_000009.11:g.104189886del , CM000671.1:g.104189886del GRCh37
NC_000009.10:g.103229707del NCBI36
NG_012387.1:g.13179del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.420del MANE Select ENSP00000497767.1:p.Asp141MetfsTer12
ENST00000648064.1:c.420del ENSP00000497990.1:p.Asp141MetfsTer12
ENST00000648758.1:c.420del ENSP00000497731.1:p.Asp141MetfsTer12
ENST00000649902.1:c.420del ENSP00000497216.1:p.Asp141MetfsTer12
ENST00000374855.8:c.420del ENSP00000363988.4:p.Asp141MetfsTer12
ENST00000468981.3:n.68-964del
ENST00000616752.1:c.420del ENSP00000481363.1:p.Asp141MetfsTer12
NM_000035.3:c.420del NP_000026.2:p.Asp141MetfsTer12
NM_000035.4:c.420del MANE Select NP_000026.2:p.Asp141MetfsTer12
Search 100 bp 5'
Search 100 bp 3'