Canonical Allele Identifier: CA2740090893

Gene: VHL

Linked Data

• ClinVar Variation Id: 2948796
• ClinVar RCV Id: RCV003809570

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146509_10146510delinsTT , CM000665.2:g.10146509_10146510delinsTT	GRCh38
NC_000003.11:g.10188193_10188194delinsTT , CM000665.1:g.10188193_10188194delinsTT	GRCh37
NC_000003.10:g.10163193_10163194delinsTT	NCBI36
NG_008212.3:g.9875_9876delinsTT , LRG_322:g.9875_9876delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-5_*18-4delinsTT	ENSP00000512434.1:n.*18-5_*18-4delinsTT
ENST00000696143.1:c.600-3278_600-3277delinsTT	ENSP00000512435.1:n.600-3278_600-3277delinsTT
ENST00000696153.1:c.341-5_341-4delinsTT	ENSP00000512444.1:n.341-5_341-4delinsTT
ENST00000256474.3:c.341-5_341-4delinsTT MANE Select	ENSP00000256474.3:n.341-5_341-4delinsTT
ENST00000256474.2:c.341-5_341-4delinsTT	ENSP00000256474.2:n.341-5_341-4delinsTT
ENST00000345392.2:c.341-3278_341-3277delinsTT	ENSP00000344757.2:n.341-3278_341-3277delinsTT
ENST00000477538.1:n.477-5_477-4delinsTT
NM_000551.3:c.341-5_341-4delinsTT , LRG_322t1:c.341-5_341-4delinsTT	NP_000542.1:n.341-5_341-4delinsTT
NM_198156.2:c.341-3278_341-3277delinsTT	NP_937799.1:n.341-3278_341-3277delinsTT
XM_011534078.1:c.*18-5_*18-4delinsTT	XP_011532380.1:n.*18-5_*18-4delinsTT
NM_001354723.1:c.*18-3278_*18-3277delinsTT	NP_001341652.1:n.*18-3278_*18-3277delinsTT
NM_000551.4:c.341-5_341-4delinsTT MANE Select	NP_000542.1:n.341-5_341-4delinsTT
NM_001354723.2:c.*18-3278_*18-3277delinsTT	NP_001341652.1:n.*18-3278_*18-3277delinsTT
NM_198156.3:c.341-3278_341-3277delinsTT	NP_937799.1:n.341-3278_341-3277delinsTT