Canonical Allele Identifier: CA2499216357

Gene: VHL

Linked Data

• ClinVar Variation Id: 997722
• ClinVar RCV Id: RCV001293279

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142615_10148584del , CM000665.2:g.10142615_10148584del	GRCh38
NC_000003.11:g.10184299_10190268del , CM000665.1:g.10184299_10190268del	GRCh37
NC_000003.10:g.10159299_10165268del	NCBI36
NG_008212.3:g.5981_11950del , LRG_322:g.5981_11950del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.341-148_*141-1203del
ENST00000696143.1:c.341-148_600-1203del
ENST00000696153.1:c.340+428_464-120del
ENST00000256474.3:c.340+428_464-1203del
ENST00000256474.2:c.340+428_464-1203del
ENST00000345392.2:c.340+428_341-1203del	ENSP00000344757.2:n.340+428_341-1203del
ENST00000477538.1:n.70_600-1203del
NM_000551.3:c.340+428_464-1203del , LRG_322t1:c.340+428_464-1203del
NM_198156.2:c.340+428_341-1203del	NP_937799.1:n.340+428_341-1203del
NM_001354723.1:c.341-148_*18-1203del
NM_000551.4:c.340+428_464-1203del
NM_001354723.2:c.341-148_*18-1203del
NM_198156.3:c.340+428_341-1203del	NP_937799.1:n.340+428_341-1203del