Canonical Allele Identifier: CA2788894858
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863518del , CM000672.2:g.87863518del GRCh38
NC_000010.10:g.89623275del , CM000672.1:g.89623275del GRCh37
NC_000010.9:g.89613255del NCBI36
NG_007466.2:g.5081del , LRG_311:g.5081del
NG_033079.1:g.4922del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+876del (PTEN) ENSP00000516674.1:n.-17+876del
ENST00000688308.1:c.-17+405del (PTEN) ENSP00000508752.1:n.-17+405del
ENST00000693560.1:c.-432del (PTEN) ENSP00000509861.1:n.-432del
ENST00000445946.5:c.-1029del (KLLN) MANE Select ENSP00000392204.2:n.-1029del
ENST00000371953.7:c.-952del (PTEN) ENSP00000361021.3:n.-952del
ENST00000610634.1:c.-1054del (PTEN) ENSP00000477517.1:n.-1054del
NM_000314.5:c.-951del (PTEN) NP_000305.3:n.-951del
NM_000314.6:c.-951del (PTEN) NP_000305.3:n.-951del
NM_001304717.2:c.-432del (PTEN) NP_001291646.2:n.-432del
NM_001304718.1:c.-1656del (PTEN) NP_001291647.1:n.-1656del
NM_001126049.2:c.-1029del (KLLN) MANE Select NP_001119521.1:n.-1029del
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