Canonical Allele Identifier: CA2664400184

Gene: VHL

Linked Data

• gnomAD v4: 3-10150202-AGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150208_10150210del , CM000665.2:g.10150208_10150210del	GRCh38
NC_000003.11:g.10191892_10191894del , CM000665.1:g.10191892_10191894del	GRCh37
NC_000003.10:g.10166892_10166894del	NCBI36
NG_008212.3:g.13574_13576del , LRG_322:g.13574_13576del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*562_*564del	ENSP00000512434.1:n.*562_*564del
ENST00000696143.1:c.1021_1023del	ENSP00000512435.1:n.1021_1023del
ENST00000696153.1:c.*243_*245del	ENSP00000512444.1:n.*243_*245del
ENST00000256474.3:c.*243_*245del MANE Select	ENSP00000256474.3:n.*243_*245del
ENST00000256474.2:c.*243_*245del	ENSP00000256474.2:n.*243_*245del
ENST00000345392.2:c.*243_*245del	ENSP00000344757.2:n.*243_*245del
NM_000551.3:c.*243_*245del , LRG_322t1:c.*243_*245del	NP_000542.1:n.*243_*245del
NM_198156.2:c.*243_*245del	NP_937799.1:n.*243_*245del
NM_001354723.1:c.*439_*441del	NP_001341652.1:n.*439_*441del
NM_000551.4:c.*243_*245del MANE Select	NP_000542.1:n.*243_*245del
NM_001354723.2:c.*439_*441del	NP_001341652.1:n.*439_*441del
NM_198156.3:c.*243_*245del	NP_937799.1:n.*243_*245del