Canonical Allele Identifier: CA2499216355

Gene: VHL

Linked Data

• ClinVar Variation Id: 997759
• ClinVar RCV Id: RCV001293316

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142494_10148596del , CM000665.2:g.10142494_10148596del	GRCh38
NC_000003.11:g.10184178_10190280del , CM000665.1:g.10184178_10190280del	GRCh37
NC_000003.10:g.10159178_10165280del	NCBI36
NG_008212.3:g.5860_11962del , LRG_322:g.5860_11962del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.341-269_*141-1191del
ENST00000696143.1:c.341-269_600-1191del
ENST00000696153.1:c.340+307_464-108del
ENST00000256474.3:c.340+307_464-1191del
ENST00000256474.2:c.340+307_464-1191del
ENST00000345392.2:c.340+307_341-1191del	ENSP00000344757.2:n.340+307_341-1191del
NM_000551.3:c.340+307_464-1191del , LRG_322t1:c.340+307_464-1191del
NM_198156.2:c.340+307_341-1191del	NP_937799.1:n.340+307_341-1191del
NM_001354723.1:c.341-269_*18-1191del
NM_000551.4:c.340+307_464-1191del
NM_001354723.2:c.341-269_*18-1191del
NM_198156.3:c.340+307_341-1191del	NP_937799.1:n.340+307_341-1191del