Canonical Allele Identifier: CA930912227
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

dbSNP Id: rs1858315644
gnomAD v3: 10-87863189-CCCA-C
gnomAD v4: 10-87863189-CCCA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863191_87863193del , CM000672.2:g.87863191_87863193del GRCh38
NC_000010.10:g.89622948_89622950del , CM000672.1:g.89622948_89622950del GRCh37
NC_000010.9:g.89612928_89612930del NCBI36
NG_007466.2:g.4754_4756del , LRG_311:g.4754_4756del
NG_033079.1:g.5246_5248del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+549_-17+551del (PTEN) ENSP00000516674.1:n.-17+549_-17+551del
ENST00000688308.1:c.-17+78_-17+80del (PTEN) ENSP00000508752.1:n.-17+78_-17+80del
ENST00000445946.5:c.-705_-703del (KLLN) MANE Select ENSP00000392204.2:n.-705_-703del
ENST00000371953.7:c.-1279_-1277del (PTEN) ENSP00000361021.3:n.-1279_-1277del
ENST00000445946.3:c.-705_-703del (KLLN) ENSP00000392204.2:n.-705_-703del
NM_001126049.1:c.-705_-703del (KLLN) NP_001119521.1:n.-705_-703del
NM_001126049.2:c.-705_-703del (KLLN) MANE Select NP_001119521.1:n.-705_-703del
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