Canonical Allele Identifier: CA2499216376

Gene: VHL

Linked Data

• ClinVar Variation Id: 997729
• ClinVar RCV Id: RCV001293286

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144931_10148310del , CM000665.2:g.10144931_10148310del	GRCh38
NC_000003.11:g.10186615_10189994del , CM000665.1:g.10186615_10189994del	GRCh37
NC_000003.10:g.10161615_10164994del	NCBI36
NG_008212.3:g.8297_11676del , LRG_322:g.8297_11676del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-1583_*141-1477del
ENST00000696143.1:c.599+1910_600-1477del	ENSP00000512435.1:n.599+1910_600-1477del
ENST00000696153.1:c.341-1583_464-394del
ENST00000256474.3:c.341-1583_464-1477del
ENST00000256474.2:c.341-1583_464-1477del
ENST00000345392.2:c.340+2744_341-1477del	ENSP00000344757.2:n.340+2744_341-1477del
ENST00000477538.1:n.477-1583_600-1477del
NM_000551.3:c.341-1583_464-1477del , LRG_322t1:c.341-1583_464-1477del
NM_198156.2:c.340+2744_341-1477del	NP_937799.1:n.340+2744_341-1477del
NM_001354723.1:c.*17+1910_*18-1477del	NP_001341652.1:n.*17+1910_*18-1477del
NM_000551.4:c.341-1583_464-1477del
NM_001354723.2:c.*17+1910_*18-1477del	NP_001341652.1:n.*17+1910_*18-1477del
NM_198156.3:c.340+2744_341-1477del	NP_937799.1:n.340+2744_341-1477del