Canonical Allele Identifier: CA2610046015
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

gnomAD v4: 10-87863375-ACT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863378_87863379del , CM000672.2:g.87863378_87863379del GRCh38
NC_000010.10:g.89623135_89623136del , CM000672.1:g.89623135_89623136del GRCh37
NC_000010.9:g.89613115_89613116del NCBI36
NG_007466.2:g.4941_4942del , LRG_311:g.4941_4942del
NG_033079.1:g.5061_5062del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+736_-17+737del (PTEN) ENSP00000516674.1:n.-17+736_-17+737del
ENST00000688308.1:c.-17+265_-17+266del (PTEN) ENSP00000508752.1:n.-17+265_-17+266del
ENST00000445946.5:c.-890_-889del (KLLN) MANE Select ENSP00000392204.2:n.-890_-889del
ENST00000371953.7:c.-1092_-1091del (PTEN) ENSP00000361021.3:n.-1092_-1091del
ENST00000445946.3:c.-890_-889del (KLLN) ENSP00000392204.2:n.-890_-889del
NM_001126049.1:c.-890_-889del (KLLN) NP_001119521.1:n.-890_-889del
NM_001126049.2:c.-890_-889del (KLLN) MANE Select NP_001119521.1:n.-890_-889del
Search 100 bp 5'
Search 100 bp 3'