Canonical Allele Identifier: CA2610045906

Gene: PTEN KLLN

Linked Data

• gnomAD v4: 10-87863251-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863251A>G , CM000672.2:g.87863251A>G	GRCh38
NC_000010.10:g.89623008A>G , CM000672.1:g.89623008A>G	GRCh37
NC_000010.9:g.89612988A>G	NCBI36
NG_007466.2:g.4814A>G , LRG_311:g.4814A>G
NG_033079.1:g.5187T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706954.1:c.-17+609A>G (PTEN)	ENSP00000516674.1:n.-17+609A>G
ENST00000688308.1:c.-17+138A>G (PTEN)	ENSP00000508752.1:n.-17+138A>G
ENST00000445946.5:c.-764T>C (KLLN) MANE Select	ENSP00000392204.2:n.-764T>C
ENST00000371953.7:c.-1219A>G (PTEN)	ENSP00000361021.3:n.-1219A>G
ENST00000445946.3:c.-764T>C (KLLN)	ENSP00000392204.2:n.-764T>C
NM_001126049.1:c.-764T>C (KLLN)	NP_001119521.1:n.-764T>C
NM_001126049.2:c.-764T>C (KLLN) MANE Select	NP_001119521.1:n.-764T>C