Canonical Allele Identifier: CA2610045680
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

gnomAD v4: 10-87863164-TTCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863171_87863173del , CM000672.2:g.87863171_87863173del GRCh38
NC_000010.10:g.89622928_89622930del , CM000672.1:g.89622928_89622930del GRCh37
NC_000010.9:g.89612908_89612910del NCBI36
NG_007466.2:g.4734_4736del , LRG_311:g.4734_4736del
NG_033079.1:g.5271_5273del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+529_-17+531del (PTEN) ENSP00000516674.1:n.-17+529_-17+531del
ENST00000688308.1:c.-17+58_-17+60del (PTEN) ENSP00000508752.1:n.-17+58_-17+60del
ENST00000445946.5:c.-680_-678del (KLLN) MANE Select ENSP00000392204.2:n.-680_-678del
ENST00000371953.7:c.-1299_-1297del (PTEN) ENSP00000361021.3:n.-1299_-1297del
ENST00000445946.3:c.-680_-678del (KLLN) ENSP00000392204.2:n.-680_-678del
NM_001126049.1:c.-680_-678del (KLLN) NP_001119521.1:n.-680_-678del
NM_001126049.2:c.-680_-678del (KLLN) MANE Select NP_001119521.1:n.-680_-678del
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