Canonical Allele Identifier: CA658797491

Linked Data

ClinVar Variation Id: 503748
ClinVar RCV Id: RCV000599213
dbSNP Id: rs1554889820

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863290_87863291delinsTT , CM000672.2:g.87863290_87863291delinsTT GRCh38
NC_000010.10:g.89623047_89623048delinsTT , CM000672.1:g.89623047_89623048delinsTT GRCh37
NC_000010.9:g.89613027_89613028delinsTT NCBI36
NG_007466.2:g.4853_4854delinsTT , LRG_311:g.4853_4854delinsTT
NG_033079.1:g.5147_5148delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+648_-17+649delinsTT (PTEN) ENSP00000516674.1:n.-17+648_-17+649delinsTT
ENST00000688308.1:c.-17+177_-17+178delinsTT (PTEN) ENSP00000508752.1:n.-17+177_-17+178delinsTT
ENST00000445946.5:c.-804_-803delinsAA (KLLN) MANE Select ENSP00000392204.2:n.-804_-803delinsAA
ENST00000371953.7:c.-1180_-1179delinsTT (PTEN) ENSP00000361021.3:n.-1180_-1179delinsTT
ENST00000445946.3:c.-804_-803delinsAA (KLLN) ENSP00000392204.2:n.-804_-803delinsAA
NM_001126049.1:c.-804_-803delinsAA (KLLN) NP_001119521.1:n.-804_-803delinsAA
NM_001126049.2:c.-804_-803delinsAA (KLLN) MANE Select NP_001119521.1:n.-804_-803delinsAA