Canonical Allele Identifier: CA2610046074
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

gnomAD v4: 10-87863407-CCCCCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863410_87863414del , CM000672.2:g.87863410_87863414del GRCh38
NC_000010.10:g.89623167_89623171del , CM000672.1:g.89623167_89623171del GRCh37
NC_000010.9:g.89613147_89613151del NCBI36
NG_007466.2:g.4973_4977del , LRG_311:g.4973_4977del
NG_033079.1:g.5026_5030del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+768_-17+772del (PTEN) ENSP00000516674.1:n.-17+768_-17+772del
ENST00000688308.1:c.-17+297_-17+301del (PTEN) ENSP00000508752.1:n.-17+297_-17+301del
ENST00000445946.5:c.-925_-921del (KLLN) MANE Select ENSP00000392204.2:n.-925_-921del
ENST00000371953.7:c.-1060_-1056del (PTEN) ENSP00000361021.3:n.-1060_-1056del
ENST00000445946.3:c.-925_-921del (KLLN) ENSP00000392204.2:n.-925_-921del
NM_001126049.1:c.-925_-921del (KLLN) NP_001119521.1:n.-925_-921del
NM_001126049.2:c.-925_-921del (KLLN) MANE Select NP_001119521.1:n.-925_-921del
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