Canonical Allele Identifier: CA2610046246
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

gnomAD v4: 10-87863469-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863469T>C , CM000672.2:g.87863469T>C GRCh38
NC_000010.10:g.89623226T>C , CM000672.1:g.89623226T>C GRCh37
NC_000010.9:g.89613206T>C NCBI36
NG_007466.2:g.5032T>C , LRG_311:g.5032T>C
NG_033079.1:g.4969A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+827T>C (PTEN) ENSP00000516674.1:n.-17+827T>C
ENST00000688308.1:c.-17+356T>C (PTEN) ENSP00000508752.1:n.-17+356T>C
ENST00000693560.1:c.-481T>C (PTEN) ENSP00000509861.1:n.-481T>C
ENST00000445946.5:c.-982A>G (KLLN) MANE Select ENSP00000392204.2:n.-982A>G
ENST00000371953.7:c.-1001T>C (PTEN) ENSP00000361021.3:n.-1001T>C
ENST00000610634.1:c.-1103T>C (PTEN) ENSP00000477517.1:n.-1103T>C
NM_000314.5:c.-1000T>C (PTEN) NP_000305.3:n.-1000T>C
NM_000314.6:c.-1000T>C (PTEN) NP_000305.3:n.-1000T>C
NM_001304717.2:c.-481T>C (PTEN) NP_001291646.2:n.-481T>C
NM_001304718.1:c.-1705T>C (PTEN) NP_001291647.1:n.-1705T>C
NM_001126049.2:c.-982A>G (KLLN) MANE Select NP_001119521.1:n.-982A>G
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