Canonical Allele Identifier: CA915941832

Gene: VHL

Linked Data

• ClinVar Variation Id: 827380
• ClinVar RCV Id: RCV001027041
• dbSNP Id: rs1575920798
• gnomAD v4: 3-10141850-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141854del , CM000665.2:g.10141854del	GRCh38
NC_000003.11:g.10183538del , CM000665.1:g.10183538del	GRCh37
NC_000003.10:g.10158538del	NCBI36
NG_008212.3:g.5220del , LRG_322:g.5220del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.7del	ENSP00000512434.1:p.Arg3GlyfsTer11
ENST00000696143.1:c.7del	ENSP00000512435.1:p.Arg3GlyfsTer11
ENST00000696153.1:c.7del	ENSP00000512444.1:p.Arg3GlyfsTer11
ENST00000256474.3:c.7del MANE Select	ENSP00000256474.3:p.Arg3GlyfsTer11
ENST00000256474.2:c.7del	ENSP00000256474.2:p.Arg3GlyfsTer11
ENST00000345392.2:c.7del	ENSP00000344757.2:p.Arg3GlyfsTer11
NM_000551.3:c.7del , LRG_322t1:c.7del	NP_000542.1:p.Arg3GlyfsTer11
NM_198156.2:c.7del	NP_937799.1:p.Arg3GlyfsTer11
XM_011534078.1:c.7del	XP_011532380.1:p.Arg3GlyfsTer11
NM_001354723.1:c.7del	NP_001341652.1:p.Arg3GlyfsTer11
NM_000551.4:c.7del MANE Select	NP_000542.1:p.Arg3GlyfsTer11
NM_001354723.2:c.7del	NP_001341652.1:p.Arg3GlyfsTer11
NM_198156.3:c.7del	NP_937799.1:p.Arg3GlyfsTer11