Canonical Allele Identifier: CA2499216375

Gene: VHL

Linked Data

• ClinVar Variation Id: 997728
• ClinVar RCV Id: RCV001293285

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144657_10148459del , CM000665.2:g.10144657_10148459del	GRCh38
NC_000003.11:g.10186341_10190143del , CM000665.1:g.10186341_10190143del	GRCh37
NC_000003.10:g.10161341_10165143del	NCBI36
NG_008212.3:g.8023_11825del , LRG_322:g.8023_11825del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*17+1636_*141-1328del
ENST00000696143.1:c.599+1636_600-1328del	ENSP00000512435.1:n.599+1636_600-1328del
ENST00000696153.1:c.341-1857_464-245del
ENST00000256474.3:c.341-1857_464-1328del
ENST00000256474.2:c.341-1857_464-1328del
ENST00000345392.2:c.340+2470_341-1328del	ENSP00000344757.2:n.340+2470_341-1328del
ENST00000477538.1:n.476+1636_600-1328del
NM_000551.3:c.341-1857_464-1328del , LRG_322t1:c.341-1857_464-1328del
NM_198156.2:c.340+2470_341-1328del	NP_937799.1:n.340+2470_341-1328del
NM_001354723.1:c.*17+1636_*18-1328del	NP_001341652.1:n.*17+1636_*18-1328del
NM_000551.4:c.341-1857_464-1328del
NM_001354723.2:c.*17+1636_*18-1328del	NP_001341652.1:n.*17+1636_*18-1328del
NM_198156.3:c.340+2470_341-1328del	NP_937799.1:n.340+2470_341-1328del