Canonical Allele Identifier: CA169939

Gene: PTEN KLLN

Linked Data

• ClinVar Variation Id: 142982
• ClinVar RCV Id: RCV000132491
• dbSNP Id: rs587782867
• MyVariant Identifiers: chr10:g.89623039_89623041del (hg19) ; chr10:g.87863282_87863284del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863282_87863284del , CM000672.2:g.87863282_87863284del	GRCh38
NC_000010.10:g.89623039_89623041del , CM000672.1:g.89623039_89623041del	GRCh37
NC_000010.9:g.89613019_89613021del	NCBI36
NG_007466.2:g.4845_4847del , LRG_311:g.4845_4847del
NG_033079.1:g.5157_5159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706954.1:c.-17+640_-17+642del (PTEN)	ENSP00000516674.1:n.-17+640_-17+642del
ENST00000688308.1:c.-17+169_-17+171del (PTEN)	ENSP00000508752.1:n.-17+169_-17+171del
ENST00000445946.5:c.-794_-792del (KLLN) MANE Select	ENSP00000392204.2:n.-794_-792del
ENST00000371953.7:c.-1188_-1186del (PTEN)	ENSP00000361021.3:n.-1188_-1186del
ENST00000445946.3:c.-794_-792del (KLLN)	ENSP00000392204.2:n.-794_-792del
NM_001126049.1:c.-794_-792del (KLLN)	NP_001119521.1:n.-794_-792del
NM_001126049.2:c.-794_-792del (KLLN) MANE Select	NP_001119521.1:n.-794_-792del