Canonical Allele Identifier: CA2610046149

Gene: PTEN KLLN

Linked Data

• gnomAD v4: 10-87863435-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863435T>C , CM000672.2:g.87863435T>C	GRCh38
NC_000010.10:g.89623192T>C , CM000672.1:g.89623192T>C	GRCh37
NC_000010.9:g.89613172T>C	NCBI36
NG_007466.2:g.4998T>C , LRG_311:g.4998T>C
NG_033079.1:g.5003A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706954.1:c.-17+793T>C (PTEN)	ENSP00000516674.1:n.-17+793T>C
ENST00000688308.1:c.-17+322T>C (PTEN)	ENSP00000508752.1:n.-17+322T>C
ENST00000445946.5:c.-948A>G (KLLN) MANE Select	ENSP00000392204.2:n.-948A>G
ENST00000371953.7:c.-1035T>C (PTEN)	ENSP00000361021.3:n.-1035T>C
ENST00000445946.3:c.-948A>G (KLLN)	ENSP00000392204.2:n.-948A>G
NM_001126049.1:c.-948A>G (KLLN)	NP_001119521.1:n.-948A>G
NM_001126049.2:c.-948A>G (KLLN) MANE Select	NP_001119521.1:n.-948A>G