Canonical Allele Identifier: CA2740090901

Gene: VHL

Linked Data

• ClinVar Variation Id: 2951902
• ClinVar RCV Id: RCV003812589

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149808_10149809delinsTT , CM000665.2:g.10149808_10149809delinsTT	GRCh38
NC_000003.11:g.10191492_10191493delinsTT , CM000665.1:g.10191492_10191493delinsTT	GRCh37
NC_000003.10:g.10166492_10166493delinsTT	NCBI36
NG_008212.3:g.13174_13175delinsTT , LRG_322:g.13174_13175delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*162_*163delinsTT	ENSP00000512434.1:n.*162_*163delinsTT
ENST00000696143.1:c.621_622delinsTT	ENSP00000512435.1:n.621_622delinsTT
ENST00000696153.1:c.596_597delinsTT	ENSP00000512444.1:p.Cys199Phe
ENST00000256474.3:c.485_486delinsTT MANE Select	ENSP00000256474.3:p.Cys162Phe
ENST00000256474.2:c.485_486delinsTT	ENSP00000256474.2:p.Cys162Phe
ENST00000345392.2:c.362_363delinsTT	ENSP00000344757.2:p.Cys121Phe
ENST00000477538.1:n.621_622delinsTT
NM_000551.3:c.485_486delinsTT , LRG_322t1:c.485_486delinsTT	NP_000542.1:p.Cys162Phe
NM_198156.2:c.362_363delinsTT	NP_937799.1:p.Cys121Phe
NM_001354723.1:c.*39_*40delinsTT	NP_001341652.1:n.*39_*40delinsTT
NM_000551.4:c.485_486delinsTT MANE Select	NP_000542.1:p.Cys162Phe
NM_001354723.2:c.*39_*40delinsTT	NP_001341652.1:n.*39_*40delinsTT
NM_198156.3:c.362_363delinsTT	NP_937799.1:p.Cys121Phe