Canonical Allele Identifier: CA1045001537

Gene: VHL

Linked Data

• dbSNP Id: rs1696446761
• gnomAD v3: 3-10152793-TTTA-T
• gnomAD v4: 3-10152793-TTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152799_10152801del , CM000665.2:g.10152799_10152801del	GRCh38
NC_000003.11:g.10194483_10194485del , CM000665.1:g.10194483_10194485del	GRCh37
NC_000003.10:g.10169483_10169485del	NCBI36
NG_008212.3:g.16165_16167del , LRG_322:g.16165_16167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2834_*2836del	ENSP00000512444.1:n.*2834_*2836del
ENST00000256474.3:c.*2834_*2836del MANE Select	ENSP00000256474.3:n.*2834_*2836del
NM_000551.3:c.*2834_*2836del , LRG_322t1:c.*2834_*2836del	NP_000542.1:n.*2834_*2836del
NM_198156.2:c.*2834_*2836del	NP_937799.1:n.*2834_*2836del
NM_001354723.1:c.*3030_*3032del	NP_001341652.1:n.*3030_*3032del
NM_000551.4:c.*2834_*2836del MANE Select	NP_000542.1:n.*2834_*2836del
NM_001354723.2:c.*3030_*3032del	NP_001341652.1:n.*3030_*3032del
NM_198156.3:c.*2834_*2836del	NP_937799.1:n.*2834_*2836del