Allele Registry

Canonical Allele Identifier: CA257187

Gene: RMRP HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr9:g.35657824dupA

GRCh38 chr9:g.35657823_35657824insA

GRCh37 chr9:g.35657821dupA

GRCh37 chr9:g.35657820_35657821insA

Linked Data - Sequence & Population

gnomAD v3:

9:35657823 G / GA

gnomAD v4:

chr9-35657823-G-GA

Joint Max Group AF 0.00005171 (AFR)

Genomes Max Group AF 0.00005573 (AFR)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000015291

RCV000548629

ClinVar Variation:

14223

dbSNP:

796065036

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35657824dup , CM000671.2:g.35657824dup	GRCh38
NC_000009.11:g.35657821dup , CM000671.1:g.35657821dup	GRCh37
NC_000009.10:g.35647821dup	NCBI36
NG_017041.1:g.5195dup , LRG_163:g.5195dup
NG_033120.1:g.4535dup

Transcript Alleles

HGVS	Amino-acid Change
NR_003051.3:n.195dup , LRG_163t1:n.195dup

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