Canonical Allele Identifier: CA2610045523
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

gnomAD v4: 10-87863126-TCGAG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863127_87863130del , CM000672.2:g.87863127_87863130del GRCh38
NC_000010.10:g.89622884_89622887del , CM000672.1:g.89622884_89622887del GRCh37
NC_000010.9:g.89612864_89612867del NCBI36
NG_007466.2:g.4690_4693del , LRG_311:g.4690_4693del
NG_033079.1:g.5308_5311del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+485_-17+488del (PTEN) ENSP00000516674.1:n.-17+485_-17+488del
ENST00000688308.1:c.-17+14_-17+17del (PTEN) ENSP00000508752.1:n.-17+14_-17+17del
ENST00000445946.5:c.-643_-640del (KLLN) MANE Select ENSP00000392204.2:n.-643_-640del
ENST00000371953.7:c.-1343_-1340del (PTEN) ENSP00000361021.3:n.-1343_-1340del
ENST00000445946.3:c.-643_-640del (KLLN) ENSP00000392204.2:n.-643_-640del
NM_001126049.1:c.-643_-640del (KLLN) NP_001119521.1:n.-643_-640del
NM_001126049.2:c.-643_-640del (KLLN) MANE Select NP_001119521.1:n.-643_-640del
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