Canonical Allele Identifier: CA915941845

Gene: VHL

Linked Data

• ClinVar Variation Id: 694389
• ClinVar RCV Id: RCV000855722
• dbSNP Id: rs1575932266

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149853_10149859del , CM000665.2:g.10149853_10149859del	GRCh38
NC_000003.11:g.10191537_10191543del , CM000665.1:g.10191537_10191543del	GRCh37
NC_000003.10:g.10166537_10166543del	NCBI36
NG_008212.3:g.13219_13225del , LRG_322:g.13219_13225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*207_*213del	ENSP00000512434.1:n.*207_*213del
ENST00000696143.1:c.666_672del	ENSP00000512435.1:n.666_672del
ENST00000696153.1:c.641_647del	ENSP00000512444.1:p.Arg214ThrfsTer23
ENST00000256474.3:c.530_536del MANE Select	ENSP00000256474.3:p.Arg177ThrfsTer23
ENST00000256474.2:c.530_536del	ENSP00000256474.2:p.Arg177ThrfsTer23
ENST00000345392.2:c.407_413del	ENSP00000344757.2:p.Arg136ThrfsTer23
ENST00000477538.1:n.666_672del
NM_000551.3:c.530_536del , LRG_322t1:c.530_536del	NP_000542.1:p.Arg177ThrfsTer23
NM_198156.2:c.407_413del	NP_937799.1:p.Arg136ThrfsTer23
NM_001354723.1:c.*84_*90del	NP_001341652.1:n.*84_*90del
NM_000551.4:c.530_536del MANE Select	NP_000542.1:p.Arg177ThrfsTer23
NM_001354723.2:c.*84_*90del	NP_001341652.1:n.*84_*90del
NM_198156.3:c.407_413del	NP_937799.1:p.Arg136ThrfsTer23