Canonical Allele Identifier: CA2610045621
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

gnomAD v4: 10-87863149-G-GAGATCTA
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863149_87863150insAGATCTA , CM000672.2:g.87863149_87863150insAGATCTA GRCh38
NC_000010.10:g.89622906_89622907insAGATCTA , CM000672.1:g.89622906_89622907insAGATCTA GRCh37
NC_000010.9:g.89612886_89612887insAGATCTA NCBI36
NG_007466.2:g.4712_4713insAGATCTA , LRG_311:g.4712_4713insAGATCTA
NG_033079.1:g.5288_5289insTAGATCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+507_-17+508insAGATCTA (PTEN) ENSP00000516674.1:n.-17+507_-17+508insAGATCTA
ENST00000688308.1:c.-17+36_-17+37insAGATCTA (PTEN) ENSP00000508752.1:n.-17+36_-17+37insAGATCTA
ENST00000445946.5:c.-663_-662insTAGATCT (KLLN) MANE Select ENSP00000392204.2:n.-663_-662insTAGATCT
ENST00000371953.7:c.-1321_-1320insAGATCTA (PTEN) ENSP00000361021.3:n.-1321_-1320insAGATCTA
ENST00000445946.3:c.-663_-662insTAGATCT (KLLN) ENSP00000392204.2:n.-663_-662insTAGATCT
NM_001126049.1:c.-663_-662insTAGATCT (KLLN) NP_001119521.1:n.-663_-662insTAGATCT
NM_001126049.2:c.-663_-662insTAGATCT (KLLN) MANE Select NP_001119521.1:n.-663_-662insTAGATCT
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