Canonical Allele Identifier: CA2610046304
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

gnomAD v4: 10-87863492-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863492T>C , CM000672.2:g.87863492T>C GRCh38
NC_000010.10:g.89623249T>C , CM000672.1:g.89623249T>C GRCh37
NC_000010.9:g.89613229T>C NCBI36
NG_007466.2:g.5055T>C , LRG_311:g.5055T>C
NG_033079.1:g.4946A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+850T>C (PTEN) ENSP00000516674.1:n.-17+850T>C
ENST00000688308.1:c.-17+379T>C (PTEN) ENSP00000508752.1:n.-17+379T>C
ENST00000693560.1:c.-458T>C (PTEN) ENSP00000509861.1:n.-458T>C
ENST00000445946.5:c.-1005A>G (KLLN) MANE Select ENSP00000392204.2:n.-1005A>G
ENST00000371953.7:c.-978T>C (PTEN) ENSP00000361021.3:n.-978T>C
ENST00000610634.1:c.-1080T>C (PTEN) ENSP00000477517.1:n.-1080T>C
NM_000314.5:c.-977T>C (PTEN) NP_000305.3:n.-977T>C
NM_000314.6:c.-977T>C (PTEN) NP_000305.3:n.-977T>C
NM_001304717.2:c.-458T>C (PTEN) NP_001291646.2:n.-458T>C
NM_001304718.1:c.-1682T>C (PTEN) NP_001291647.1:n.-1682T>C
NM_001126049.2:c.-1005A>G (KLLN) MANE Select NP_001119521.1:n.-1005A>G
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