Canonical Allele Identifier: CA2580082171

Linked Data

ClinVar Variation Id: 1782043
ClinVar RCV Id: RCV002407998

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863403_87863432del , CM000672.2:g.87863403_87863432del GRCh38
NC_000010.10:g.89623160_89623189del , CM000672.1:g.89623160_89623189del GRCh37
NC_000010.9:g.89613140_89613169del NCBI36
NG_007466.2:g.4966_4995del , LRG_311:g.4966_4995del
NG_033079.1:g.5008_5037del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+761_-17+790del (PTEN) ENSP00000516674.1:n.-17+761_-17+790del
ENST00000688308.1:c.-17+290_-17+319del (PTEN) ENSP00000508752.1:n.-17+290_-17+319del
ENST00000445946.5:c.-943_-914del (KLLN) MANE Select ENSP00000392204.2:n.-943_-914del
ENST00000371953.7:c.-1067_-1038del (PTEN) ENSP00000361021.3:n.-1067_-1038del
ENST00000445946.3:c.-943_-914del (KLLN) ENSP00000392204.2:n.-943_-914del
NM_001126049.1:c.-943_-914del (KLLN) NP_001119521.1:n.-943_-914del
NM_001126049.2:c.-943_-914del (KLLN) MANE Select NP_001119521.1:n.-943_-914del