Canonical Allele Identifier: CA2664400876

Gene: VHL

Linked Data

• gnomAD v4: 3-10142513-TTTTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142515_10142519del , CM000665.2:g.10142515_10142519del	GRCh38
NC_000003.11:g.10184199_10184203del , CM000665.1:g.10184199_10184203del	GRCh37
NC_000003.10:g.10159199_10159203del	NCBI36
NG_008212.3:g.5881_5885del , LRG_322:g.5881_5885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.341-248_341-244del	ENSP00000512434.1:n.341-248_341-244del
ENST00000696143.1:c.341-248_341-244del	ENSP00000512435.1:n.341-248_341-244del
ENST00000696153.1:c.340+328_340+332del	ENSP00000512444.1:n.340+328_340+332del
ENST00000256474.3:c.340+328_340+332del MANE Select	ENSP00000256474.3:n.340+328_340+332del
ENST00000256474.2:c.340+328_340+332del	ENSP00000256474.2:n.340+328_340+332del
ENST00000345392.2:c.340+328_340+332del	ENSP00000344757.2:n.340+328_340+332del
NM_000551.3:c.340+328_340+332del , LRG_322t1:c.340+328_340+332del	NP_000542.1:n.340+328_340+332del
NM_198156.2:c.340+328_340+332del	NP_937799.1:n.340+328_340+332del
XM_011534078.1:c.341-248_341-244del	XP_011532380.1:n.341-248_341-244del
NM_001354723.1:c.341-248_341-244del	NP_001341652.1:n.341-248_341-244del
NM_000551.4:c.340+328_340+332del MANE Select	NP_000542.1:n.340+328_340+332del
NM_001354723.2:c.341-248_341-244del	NP_001341652.1:n.341-248_341-244del
NM_198156.3:c.340+328_340+332del	NP_937799.1:n.340+328_340+332del