Allele Registry

Canonical Allele Identifier: CA257185

Gene:

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr9:g.35658021_35658037dup17

GRCh38 chr9:g.35658020_35658021insGTCCTCAGCTTCACAGA

GRCh37 chr9:g.35658018_35658034dup17

GRCh37 chr9:g.35658017_35658018insGTCCTCAGCTTCACAGA

Linked Data - Sequence & Population

gnomAD v2:

9:35658017 C / CGTCCTCAGCTTCACAGA

gnomAD v3:

9:35658020 C / CGTCCTCAGCTTCACAGA

gnomAD v4:

chr9-35658020-C-CGTCCTCAGCTTCACAGA

Joint Max Group AF 0.00006152 (NFE)

Genomes Max Group AF 0.00003764 (NFE)

Exomes Max Group AF 0.00005864 (NFE)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000015282

RCV001248044

RCV002482870

RCV003156213

ClinVar Variation:

14214

dbSNP:

727502778

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35658023_35658039dup , CM000671.2:g.35658023_35658039dup	GRCh38
NC_000009.11:g.35658020_35658036dup , CM000671.1:g.35658020_35658036dup	GRCh37
NC_000009.10:g.35648020_35648036dup	NCBI36
NG_017041.1:g.4982_4998dup , LRG_163:g.4982_4998dup
NG_033120.1:g.4734_4750dup

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