Canonical Allele Identifier: CA2610045905
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

gnomAD v4: 10-87863250-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863250T>C , CM000672.2:g.87863250T>C GRCh38
NC_000010.10:g.89623007T>C , CM000672.1:g.89623007T>C GRCh37
NC_000010.9:g.89612987T>C NCBI36
NG_007466.2:g.4813T>C , LRG_311:g.4813T>C
NG_033079.1:g.5188A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+608T>C (PTEN) ENSP00000516674.1:n.-17+608T>C
ENST00000688308.1:c.-17+137T>C (PTEN) ENSP00000508752.1:n.-17+137T>C
ENST00000445946.5:c.-763A>G (KLLN) MANE Select ENSP00000392204.2:n.-763A>G
ENST00000371953.7:c.-1220T>C (PTEN) ENSP00000361021.3:n.-1220T>C
ENST00000445946.3:c.-763A>G (KLLN) ENSP00000392204.2:n.-763A>G
NM_001126049.1:c.-763A>G (KLLN) NP_001119521.1:n.-763A>G
NM_001126049.2:c.-763A>G (KLLN) MANE Select NP_001119521.1:n.-763A>G
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