Canonical Allele Identifier: CA1345065358
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1696440733

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152582del , CM000665.2:g.10152582del GRCh38
NC_000003.11:g.10194266del , CM000665.1:g.10194266del GRCh37
NC_000003.10:g.10169266del NCBI36
NG_008212.3:g.15948del , LRG_322:g.15948del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2617del ENSP00000512444.1:n.*2617del
ENST00000256474.3:c.*2617del MANE Select ENSP00000256474.3:n.*2617del
NM_000551.3:c.*2617del , LRG_322t1:c.*2617del NP_000542.1:n.*2617del
NM_198156.2:c.*2617del NP_937799.1:n.*2617del
NM_001354723.1:c.*2813del NP_001341652.1:n.*2813del
NM_000551.4:c.*2617del MANE Select NP_000542.1:n.*2617del
NM_001354723.2:c.*2813del NP_001341652.1:n.*2813del
NM_198156.3:c.*2617del NP_937799.1:n.*2617del