Canonical Allele Identifier: CA2664400113

Gene: VHL

Linked Data

• gnomAD v4: 3-10150062-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150065_10150066del , CM000665.2:g.10150065_10150066del	GRCh38
NC_000003.11:g.10191749_10191750del , CM000665.1:g.10191749_10191750del	GRCh37
NC_000003.10:g.10166749_10166750del	NCBI36
NG_008212.3:g.13431_13432del , LRG_322:g.13431_13432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*419_*420del	ENSP00000512434.1:n.*419_*420del
ENST00000696143.1:c.878_879del	ENSP00000512435.1:n.878_879del
ENST00000696153.1:c.*100_*101del	ENSP00000512444.1:n.*100_*101del
ENST00000256474.3:c.*100_*101del MANE Select	ENSP00000256474.3:n.*100_*101del
ENST00000256474.2:c.*100_*101del	ENSP00000256474.2:n.*100_*101del
ENST00000345392.2:c.*100_*101del	ENSP00000344757.2:n.*100_*101del
ENST00000477538.1:n.878_879del
NM_000551.3:c.*100_*101del , LRG_322t1:c.*100_*101del	NP_000542.1:n.*100_*101del
NM_198156.2:c.*100_*101del	NP_937799.1:n.*100_*101del
NM_001354723.1:c.*296_*297del	NP_001341652.1:n.*296_*297del
NM_000551.4:c.*100_*101del MANE Select	NP_000542.1:n.*100_*101del
NM_001354723.2:c.*296_*297del	NP_001341652.1:n.*296_*297del
NM_198156.3:c.*100_*101del	NP_937799.1:n.*100_*101del