Canonical Allele Identifier: CA2499216356

Gene: VHL

Linked Data

• ClinVar Variation Id: 997721
• ClinVar RCV Id: RCV001293278

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142552_10148878del , CM000665.2:g.10142552_10148878del	GRCh38
NC_000003.11:g.10184236_10190562del , CM000665.1:g.10184236_10190562del	GRCh37
NC_000003.10:g.10159236_10165562del	NCBI36
NG_008212.3:g.5918_12244del , LRG_322:g.5918_12244del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.341-211_*141-909del
ENST00000696143.1:c.341-211_600-909del
ENST00000696153.1:c.340+365_574+64del
ENST00000256474.3:c.340+365_464-909del
ENST00000256474.2:c.340+365_464-909del
ENST00000345392.2:c.340+365_341-909del	ENSP00000344757.2:n.340+365_341-909del
NM_000551.3:c.340+365_464-909del , LRG_322t1:c.340+365_464-909del
NM_198156.2:c.340+365_341-909del	NP_937799.1:n.340+365_341-909del
NM_001354723.1:c.341-211_*18-909del
NM_000551.4:c.340+365_464-909del
NM_001354723.2:c.341-211_*18-909del
NM_198156.3:c.340+365_341-909del	NP_937799.1:n.340+365_341-909del