Canonical Allele Identifier: CA2515860334
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

gnomAD v4: 10-87863405-T-TGCCCCCTCCTACCGCCCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863406_87863423dup , CM000672.2:g.87863406_87863423dup GRCh38
NC_000010.10:g.89623163_89623180dup , CM000672.1:g.89623163_89623180dup GRCh37
NC_000010.9:g.89613143_89613160dup NCBI36
NG_007466.2:g.4969_4986dup , LRG_311:g.4969_4986dup
NG_033079.1:g.5015_5032dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+764_-17+781dup (PTEN) ENSP00000516674.1:n.-17+764_-17+781dup
ENST00000688308.1:c.-17+293_-17+310dup (PTEN) ENSP00000508752.1:n.-17+293_-17+310dup
ENST00000445946.5:c.-936_-919dup (KLLN) MANE Select ENSP00000392204.2:n.-936_-919dup
ENST00000371953.7:c.-1064_-1047dup (PTEN) ENSP00000361021.3:n.-1064_-1047dup
ENST00000445946.3:c.-936_-919dup (KLLN) ENSP00000392204.2:n.-936_-919dup
NM_001126049.1:c.-936_-919dup (KLLN) NP_001119521.1:n.-936_-919dup
NM_001126049.2:c.-936_-919dup (KLLN) MANE Select NP_001119521.1:n.-936_-919dup
Search 100 bp 5'
Search 100 bp 3'