Canonical Allele Identifier: CA2610046195
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

gnomAD v4: 10-87863448-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863448C>G , CM000672.2:g.87863448C>G GRCh38
NC_000010.10:g.89623205C>G , CM000672.1:g.89623205C>G GRCh37
NC_000010.9:g.89613185C>G NCBI36
NG_007466.2:g.5011C>G , LRG_311:g.5011C>G
NG_033079.1:g.4990G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+806C>G (PTEN) ENSP00000516674.1:n.-17+806C>G
ENST00000688308.1:c.-17+335C>G (PTEN) ENSP00000508752.1:n.-17+335C>G
ENST00000693560.1:c.-502C>G (PTEN) ENSP00000509861.1:n.-502C>G
ENST00000445946.5:c.-961G>C (KLLN) MANE Select ENSP00000392204.2:n.-961G>C
ENST00000371953.7:c.-1022C>G (PTEN) ENSP00000361021.3:n.-1022C>G
ENST00000610634.1:c.-1124C>G (PTEN) ENSP00000477517.1:n.-1124C>G
NM_000314.5:c.-1021C>G (PTEN) NP_000305.3:n.-1021C>G
NM_000314.6:c.-1021C>G (PTEN) NP_000305.3:n.-1021C>G
NM_001304717.2:c.-502C>G (PTEN) NP_001291646.2:n.-502C>G
NM_001304718.1:c.-1726C>G (PTEN) NP_001291647.1:n.-1726C>G
NM_001126049.2:c.-961G>C (KLLN) MANE Select NP_001119521.1:n.-961G>C
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