Canonical Allele Identifier: CA2740090919

Gene: VHL

Linked Data

• ClinVar Variation Id: 2943169
• ClinVar RCV Id: RCV003800287

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142889del , CM000665.2:g.10142889del	GRCh38
NC_000003.11:g.10184573del , CM000665.1:g.10184573del	GRCh37
NC_000003.10:g.10159573del	NCBI36
NG_008212.3:g.6255del , LRG_322:g.6255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.467del	ENSP00000512434.1:p.Asp156AlafsTer8
ENST00000696143.1:c.467del	ENSP00000512435.1:p.Asp156AlafsTer8
ENST00000696153.1:c.340+702del	ENSP00000512444.1:n.340+702del
ENST00000256474.3:c.340+702del MANE Select	ENSP00000256474.3:n.340+702del
ENST00000256474.2:c.340+702del	ENSP00000256474.2:n.340+702del
ENST00000345392.2:c.340+702del	ENSP00000344757.2:n.340+702del
ENST00000477538.1:n.344del
NM_000551.3:c.340+702del , LRG_322t1:c.340+702del	NP_000542.1:n.340+702del
NM_198156.2:c.340+702del	NP_937799.1:n.340+702del
XM_011534078.1:c.467del	XP_011532380.1:p.Asp156AlafsTer8
NM_001354723.1:c.467del	NP_001341652.1:p.Asp156AlafsTer8
NM_000551.4:c.340+702del MANE Select	NP_000542.1:n.340+702del
NM_001354723.2:c.467del	NP_001341652.1:p.Asp156AlafsTer8
NM_198156.3:c.340+702del	NP_937799.1:n.340+702del