Canonical Allele Identifier: CA2499216381

Gene: VHL

Linked Data

• ClinVar Variation Id: 997734
• ClinVar RCV Id: RCV001293291

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146235_10149173del , CM000665.2:g.10146235_10149173del	GRCh38
NC_000003.11:g.10187919_10190857del , CM000665.1:g.10187919_10190857del	GRCh37
NC_000003.10:g.10162919_10165857del	NCBI36
NG_008212.3:g.9601_12539del , LRG_322:g.9601_12539del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-279_*141-614del
ENST00000696143.1:c.599+3214_600-614del	ENSP00000512435.1:n.599+3214_600-614del
ENST00000696153.1:c.341-279_574+359del
ENST00000256474.3:c.341-279_464-614del
ENST00000256474.2:c.341-279_464-614del
ENST00000345392.2:c.341-3552_341-614del	ENSP00000344757.2:n.341-3552_341-614del
ENST00000477538.1:n.477-279_600-614del
NM_000551.3:c.341-279_464-614del , LRG_322t1:c.341-279_464-614del
NM_198156.2:c.341-3552_341-614del	NP_937799.1:n.341-3552_341-614del
NM_001354723.1:c.*17+3214_*18-614del	NP_001341652.1:n.*17+3214_*18-614del
NM_000551.4:c.341-279_464-614del
NM_001354723.2:c.*17+3214_*18-614del	NP_001341652.1:n.*17+3214_*18-614del
NM_198156.3:c.341-3552_341-614del	NP_937799.1:n.341-3552_341-614del