Allele Registry

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ClinGen Allele Registry

Canonical Allele Identifier: CA357208

Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 224942

ClinVar RCV Id: RCV000210516

dbSNP Id: rs869312983

gnomAD v4: 10-87863384-T-C

MyVariant Identifiers: chr10:g.89623141T>C (hg19) chr10:g.87863384T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863384T>C , CM000672.2:g.87863384T>C	GRCh38
NC_000010.10:g.89623141T>C , CM000672.1:g.89623141T>C	GRCh37
NC_000010.9:g.89613121T>C	NCBI36
NG_007466.2:g.4947T>C , LRG_311:g.4947T>C
NG_033079.1:g.5054A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706954.1:c.-17+742T>C (PTEN)	ENSP00000516674.1:n.-17+742T>C
ENST00000688308.1:c.-17+271T>C (PTEN)	ENSP00000508752.1:n.-17+271T>C
ENST00000445946.5:c.-897A>G (KLLN) MANE Select	ENSP00000392204.2:n.-897A>G
ENST00000371953.7:c.-1086T>C (PTEN)	ENSP00000361021.3:n.-1086T>C
ENST00000445946.3:c.-897A>G (KLLN)	ENSP00000392204.2:n.-897A>G
NM_001126049.1:c.-897A>G (KLLN)	NP_001119521.1:n.-897A>G
NM_001126049.2:c.-897A>G (KLLN) MANE Select	NP_001119521.1:n.-897A>G