Canonical Allele Identifier: CA211451929
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

dbSNP Id: rs1012622907
gnomAD v3: 10-87863184-CCCG-C
gnomAD v4: 10-87863184-CCCG-C
MyVariant Identifiers: chr10:g.89622942_89622944del (hg19) chr10:g.87863185_87863187del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863187_87863189del , CM000672.2:g.87863187_87863189del GRCh38
NC_000010.10:g.89622944_89622946del , CM000672.1:g.89622944_89622946del GRCh37
NC_000010.9:g.89612924_89612926del NCBI36
NG_007466.2:g.4750_4752del , LRG_311:g.4750_4752del
NG_033079.1:g.5251_5253del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+545_-17+547del (PTEN) ENSP00000516674.1:n.-17+545_-17+547del
ENST00000688308.1:c.-17+74_-17+76del (PTEN) ENSP00000508752.1:n.-17+74_-17+76del
ENST00000445946.5:c.-700_-698del (KLLN) MANE Select ENSP00000392204.2:n.-700_-698del
ENST00000371953.7:c.-1283_-1281del (PTEN) ENSP00000361021.3:n.-1283_-1281del
ENST00000445946.3:c.-700_-698del (KLLN) ENSP00000392204.2:n.-700_-698del
NM_001126049.1:c.-700_-698del (KLLN) NP_001119521.1:n.-700_-698del
NM_001126049.2:c.-700_-698del (KLLN) MANE Select NP_001119521.1:n.-700_-698del
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