Canonical Allele Identifier: CA10616785
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 342471
ClinVar RCV Id: RCV000393829
dbSNP Id: rs71052299

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152505_10152510del , CM000665.2:g.10152505_10152510del GRCh38
NC_000003.11:g.10194189_10194194del , CM000665.1:g.10194189_10194194del GRCh37
NC_000003.10:g.10169189_10169194del NCBI36
NG_008212.3:g.15871_15876del , LRG_322:g.15871_15876del

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*2540_*2545del ENSP00000512444.1:n.*2540_*2545del
ENST00000256474.3:c.*2540_*2545del MANE Select ENSP00000256474.3:n.*2540_*2545del
NM_000551.3:c.*2540_*2545del , LRG_322t1:c.*2540_*2545del NP_000542.1:n.*2540_*2545del
NM_198156.2:c.*2540_*2545del NP_937799.1:n.*2540_*2545del
NM_001354723.1:c.*2736_*2741del NP_001341652.1:n.*2736_*2741del
NM_000551.4:c.*2540_*2545del MANE Select NP_000542.1:n.*2540_*2545del
NM_001354723.2:c.*2736_*2741del NP_001341652.1:n.*2736_*2741del
NM_198156.3:c.*2540_*2545del NP_937799.1:n.*2540_*2545del