Canonical Allele Identifier: CA2610046159

Gene: PTEN KLLN

Linked Data

• gnomAD v4: 10-87863438-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863438C>G , CM000672.2:g.87863438C>G	GRCh38
NC_000010.10:g.89623195C>G , CM000672.1:g.89623195C>G	GRCh37
NC_000010.9:g.89613175C>G	NCBI36
NG_007466.2:g.5001C>G , LRG_311:g.5001C>G
NG_033079.1:g.5000G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706954.1:c.-17+796C>G (PTEN)	ENSP00000516674.1:n.-17+796C>G
ENST00000688308.1:c.-17+325C>G (PTEN)	ENSP00000508752.1:n.-17+325C>G
ENST00000693560.1:c.-512C>G (PTEN)	ENSP00000509861.1:n.-512C>G
ENST00000445946.5:c.-951G>C (KLLN) MANE Select	ENSP00000392204.2:n.-951G>C
ENST00000371953.7:c.-1032C>G (PTEN)	ENSP00000361021.3:n.-1032C>G
ENST00000610634.1:c.-1134C>G (PTEN)	ENSP00000477517.1:n.-1134C>G
NM_000314.5:c.-1031C>G (PTEN)	NP_000305.3:n.-1031C>G
NM_000314.6:c.-1031C>G (PTEN)	NP_000305.3:n.-1031C>G
NM_001304717.2:c.-512C>G (PTEN)	NP_001291646.2:n.-512C>G
NM_001304718.1:c.-1736C>G (PTEN)	NP_001291647.1:n.-1736C>G
NM_001126049.2:c.-951G>C (KLLN) MANE Select	NP_001119521.1:n.-951G>C