Canonical Allele Identifier: CA2755195511
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152478_10152483del , CM000665.2:g.10152478_10152483del GRCh38
NC_000003.11:g.10194162_10194167del , CM000665.1:g.10194162_10194167del GRCh37
NC_000003.10:g.10169162_10169167del NCBI36
NG_008212.3:g.15844_15849del , LRG_322:g.15844_15849del

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*2513_*2518del ENSP00000512444.1:n.*2513_*2518del
ENST00000256474.3:c.*2513_*2518del MANE Select ENSP00000256474.3:n.*2513_*2518del
NM_000551.3:c.*2513_*2518del , LRG_322t1:c.*2513_*2518del NP_000542.1:n.*2513_*2518del
NM_198156.2:c.*2513_*2518del NP_937799.1:n.*2513_*2518del
NM_001354723.1:c.*2709_*2714del NP_001341652.1:n.*2709_*2714del
NM_000551.4:c.*2513_*2518del MANE Select NP_000542.1:n.*2513_*2518del
NM_001354723.2:c.*2709_*2714del NP_001341652.1:n.*2709_*2714del
NM_198156.3:c.*2513_*2518del NP_937799.1:n.*2513_*2518del
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