Canonical Allele Identifier: CA2610045514
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

gnomAD v4: 10-87863120-TCAGAC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863121_87863125del , CM000672.2:g.87863121_87863125del GRCh38
NC_000010.10:g.89622878_89622882del , CM000672.1:g.89622878_89622882del GRCh37
NC_000010.9:g.89612858_89612862del NCBI36
NG_007466.2:g.4684_4688del , LRG_311:g.4684_4688del
NG_033079.1:g.5313_5317del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+479_-17+483del (PTEN) ENSP00000516674.1:n.-17+479_-17+483del
ENST00000688308.1:c.-17+8_-17+12del (PTEN) ENSP00000508752.1:n.-17+8_-17+12del
ENST00000445946.5:c.-638_-634del (KLLN) MANE Select ENSP00000392204.2:n.-638_-634del
ENST00000371953.7:c.-1349_-1345del (PTEN) ENSP00000361021.3:n.-1349_-1345del
ENST00000445946.3:c.-638_-634del (KLLN) ENSP00000392204.2:n.-638_-634del
NM_001126049.1:c.-638_-634del (KLLN) NP_001119521.1:n.-638_-634del
NM_001126049.2:c.-638_-634del (KLLN) MANE Select NP_001119521.1:n.-638_-634del
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