Canonical Allele Identifier: CA10577396
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 234862
ClinVar RCV Id: RCV000215111
dbSNP Id: rs876661265
MyVariant Identifiers: chr10:g.89623229dupC (hg19) chr10:g.87863472dupC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863472dup , CM000672.2:g.87863472dup GRCh38
NC_000010.10:g.89623229dup , CM000672.1:g.89623229dup GRCh37
NC_000010.9:g.89613209dup NCBI36
NG_007466.2:g.5035dup , LRG_311:g.5035dup
NG_033079.1:g.4966dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+830dup (PTEN) ENSP00000516674.1:n.-17+830dup
ENST00000688308.1:c.-17+359dup (PTEN) ENSP00000508752.1:n.-17+359dup
ENST00000693560.1:c.-478dup (PTEN) ENSP00000509861.1:n.-478dup
ENST00000445946.5:c.-985dup (KLLN) MANE Select ENSP00000392204.2:n.-985dup
ENST00000371953.7:c.-998dup (PTEN) ENSP00000361021.3:n.-998dup
ENST00000610634.1:c.-1100dup (PTEN) ENSP00000477517.1:n.-1100dup
NM_000314.5:c.-997dup (PTEN) NP_000305.3:n.-997dup
NM_000314.6:c.-997dup (PTEN) NP_000305.3:n.-997dup
NM_001304717.2:c.-478dup (PTEN) NP_001291646.2:n.-478dup
NM_001304718.1:c.-1702dup (PTEN) NP_001291647.1:n.-1702dup
NM_001126049.2:c.-985dup (KLLN) MANE Select NP_001119521.1:n.-985dup
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