Canonical Allele Identifier: CA2610046296
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

gnomAD v4: 10-87863487-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863491del , CM000672.2:g.87863491del GRCh38
NC_000010.10:g.89623248del , CM000672.1:g.89623248del GRCh37
NC_000010.9:g.89613228del NCBI36
NG_007466.2:g.5054del , LRG_311:g.5054del
NG_033079.1:g.4950del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+849del (PTEN) ENSP00000516674.1:n.-17+849del
ENST00000688308.1:c.-17+378del (PTEN) ENSP00000508752.1:n.-17+378del
ENST00000693560.1:c.-459del (PTEN) ENSP00000509861.1:n.-459del
ENST00000445946.5:c.-1001del (KLLN) MANE Select ENSP00000392204.2:n.-1001del
ENST00000371953.7:c.-979del (PTEN) ENSP00000361021.3:n.-979del
ENST00000610634.1:c.-1081del (PTEN) ENSP00000477517.1:n.-1081del
NM_000314.5:c.-978del (PTEN) NP_000305.3:n.-978del
NM_000314.6:c.-978del (PTEN) NP_000305.3:n.-978del
NM_001304717.2:c.-459del (PTEN) NP_001291646.2:n.-459del
NM_001304718.1:c.-1683del (PTEN) NP_001291647.1:n.-1683del
NM_001126049.2:c.-1001del (KLLN) MANE Select NP_001119521.1:n.-1001del
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