Canonical Allele Identifier: CA1345065176
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152368_10152369delinsTC , CM000665.2:g.10152368_10152369delinsTC GRCh38
NC_000003.11:g.10194052_10194053delinsTC , CM000665.1:g.10194052_10194053delinsTC GRCh37
NC_000003.10:g.10169052_10169053delinsTC NCBI36
NG_008212.3:g.15734_15735delinsTC , LRG_322:g.15734_15735delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2403_*2404delinsTC ENSP00000512444.1:n.*2403_*2404delinsTC
ENST00000256474.3:c.*2403_*2404delinsTC MANE Select ENSP00000256474.3:n.*2403_*2404delinsTC
NM_000551.3:c.*2403_*2404delinsTC , LRG_322t1:c.*2403_*2404delinsTC NP_000542.1:n.*2403_*2404delinsTC
NM_198156.2:c.*2403_*2404delinsTC NP_937799.1:n.*2403_*2404delinsTC
NM_001354723.1:c.*2599_*2600delinsTC NP_001341652.1:n.*2599_*2600delinsTC
NM_000551.4:c.*2403_*2404delinsTC MANE Select NP_000542.1:n.*2403_*2404delinsTC
NM_001354723.2:c.*2599_*2600delinsTC NP_001341652.1:n.*2599_*2600delinsTC
NM_198156.3:c.*2403_*2404delinsTC NP_937799.1:n.*2403_*2404delinsTC