Canonical Allele Identifier: CA915947301
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 822066
ClinVar RCV Id: RCV001017110
dbSNP Id: rs587781357
gnomAD v4: 10-87863421-CCCCTGCCCTG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863431_87863440del , CM000672.2:g.87863431_87863440del GRCh38
NC_000010.10:g.89623188_89623197del , CM000672.1:g.89623188_89623197del GRCh37
NC_000010.9:g.89613168_89613177del NCBI36
NG_007466.2:g.4994_5003del , LRG_311:g.4994_5003del
NG_033079.1:g.5007_5016del

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-17+789_-17+798del (PTEN) ENSP00000516674.1:n.-17+789_-17+798del
ENST00000688308.1:c.-17+318_-17+327del (PTEN) ENSP00000508752.1:n.-17+318_-17+327del
ENST00000445946.5:c.-944_-935del (KLLN) MANE Select ENSP00000392204.2:n.-944_-935del
ENST00000371953.7:c.-1039_-1030del (PTEN) ENSP00000361021.3:n.-1039_-1030del
NM_001126049.2:c.-944_-935del (KLLN) MANE Select NP_001119521.1:n.-944_-935del
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