Canonical Allele Identifier: CA915941833

Gene: VHL

Linked Data

• ClinVar Variation Id: 818240
• ClinVar RCV Id: RCV001009648 ; RCV001860608
• dbSNP Id: rs1575920840

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141857_10141858delinsTT , CM000665.2:g.10141857_10141858delinsTT	GRCh38
NC_000003.11:g.10183541_10183542delinsTT , CM000665.1:g.10183541_10183542delinsTT	GRCh37
NC_000003.10:g.10158541_10158542delinsTT	NCBI36
NG_008212.3:g.5223_5224delinsTT , LRG_322:g.5223_5224delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.10_11delinsTT	ENSP00000512434.1:p.Arg4Leu
ENST00000696143.1:c.10_11delinsTT	ENSP00000512435.1:p.Arg4Leu
ENST00000696153.1:c.10_11delinsTT	ENSP00000512444.1:p.Arg4Leu
ENST00000256474.3:c.10_11delinsTT MANE Select	ENSP00000256474.3:p.Arg4Leu
ENST00000256474.2:c.10_11delinsTT	ENSP00000256474.2:p.Arg4Leu
ENST00000345392.2:c.10_11delinsTT	ENSP00000344757.2:p.Arg4Leu
NM_000551.3:c.10_11delinsTT , LRG_322t1:c.10_11delinsTT	NP_000542.1:p.Arg4Leu
NM_198156.2:c.10_11delinsTT	NP_937799.1:p.Arg4Leu
XM_011534078.1:c.10_11delinsTT	XP_011532380.1:p.Arg4Leu
NM_001354723.1:c.10_11delinsTT	NP_001341652.1:p.Arg4Leu
NM_000551.4:c.10_11delinsTT MANE Select	NP_000542.1:p.Arg4Leu
NM_001354723.2:c.10_11delinsTT	NP_001341652.1:p.Arg4Leu
NM_198156.3:c.10_11delinsTT	NP_937799.1:p.Arg4Leu