Canonical Allele Identifier: CA2610045604
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

gnomAD v4: 10-87863143-C-CGA
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863143_87863144insGA , CM000672.2:g.87863143_87863144insGA GRCh38
NC_000010.10:g.89622900_89622901insGA , CM000672.1:g.89622900_89622901insGA GRCh37
NC_000010.9:g.89612880_89612881insGA NCBI36
NG_007466.2:g.4706_4707insGA , LRG_311:g.4706_4707insGA
NG_033079.1:g.5294_5295insTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+501_-17+502insGA (PTEN) ENSP00000516674.1:n.-17+501_-17+502insGA
ENST00000688308.1:c.-17+30_-17+31insGA (PTEN) ENSP00000508752.1:n.-17+30_-17+31insGA
ENST00000445946.5:c.-657_-656insTC (KLLN) MANE Select ENSP00000392204.2:n.-657_-656insTC
ENST00000371953.7:c.-1327_-1326insGA (PTEN) ENSP00000361021.3:n.-1327_-1326insGA
ENST00000445946.3:c.-657_-656insTC (KLLN) ENSP00000392204.2:n.-657_-656insTC
NM_001126049.1:c.-657_-656insTC (KLLN) NP_001119521.1:n.-657_-656insTC
NM_001126049.2:c.-657_-656insTC (KLLN) MANE Select NP_001119521.1:n.-657_-656insTC
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