Canonical Allele Identifier: CA2832559828

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863190_87863191dup , CM000672.2:g.87863190_87863191dup GRCh38
NC_000010.10:g.89622947_89622948dup , CM000672.1:g.89622947_89622948dup GRCh37
NC_000010.9:g.89612927_89612928dup NCBI36
NG_007466.2:g.4753_4754dup , LRG_311:g.4753_4754dup
NG_033079.1:g.5249_5250dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+548_-17+549dup (PTEN) ENSP00000516674.1:n.-17+548_-17+549dup
ENST00000688308.1:c.-17+77_-17+78dup (PTEN) ENSP00000508752.1:n.-17+77_-17+78dup
ENST00000445946.5:c.-702_-701dup (KLLN) MANE Select ENSP00000392204.2:n.-702_-701dup
ENST00000371953.7:c.-1280_-1279dup (PTEN) ENSP00000361021.3:n.-1280_-1279dup
ENST00000445946.3:c.-702_-701dup (KLLN) ENSP00000392204.2:n.-702_-701dup
NM_001126049.1:c.-702_-701dup (KLLN) NP_001119521.1:n.-702_-701dup
NM_001126049.2:c.-702_-701dup (KLLN) MANE Select NP_001119521.1:n.-702_-701dup