Canonical Allele Identifier: CA2610046219

Gene: PTEN KLLN

Linked Data

• gnomAD v4: 10-87863455-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863455C>A , CM000672.2:g.87863455C>A	GRCh38
NC_000010.10:g.89623212C>A , CM000672.1:g.89623212C>A	GRCh37
NC_000010.9:g.89613192C>A	NCBI36
NG_007466.2:g.5018C>A , LRG_311:g.5018C>A
NG_033079.1:g.4983G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706954.1:c.-17+813C>A (PTEN)	ENSP00000516674.1:n.-17+813C>A
ENST00000688308.1:c.-17+342C>A (PTEN)	ENSP00000508752.1:n.-17+342C>A
ENST00000693560.1:c.-495C>A (PTEN)	ENSP00000509861.1:n.-495C>A
ENST00000445946.5:c.-968G>T (KLLN) MANE Select	ENSP00000392204.2:n.-968G>T
ENST00000371953.7:c.-1015C>A (PTEN)	ENSP00000361021.3:n.-1015C>A
ENST00000610634.1:c.-1117C>A (PTEN)	ENSP00000477517.1:n.-1117C>A
NM_000314.5:c.-1014C>A (PTEN)	NP_000305.3:n.-1014C>A
NM_000314.6:c.-1014C>A (PTEN)	NP_000305.3:n.-1014C>A
NM_001304717.2:c.-495C>A (PTEN)	NP_001291646.2:n.-495C>A
NM_001304718.1:c.-1719C>A (PTEN)	NP_001291647.1:n.-1719C>A
NM_001126049.2:c.-968G>T (KLLN) MANE Select	NP_001119521.1:n.-968G>T