Canonical Allele Identifier: CA2695197689

Gene: VHL

Linked Data

• ClinVar Variation Id: 2679582
• ClinVar RCV Id: RCV003466537

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141759_10141797del , CM000665.2:g.10141759_10141797del	GRCh38
NC_000003.11:g.10183443_10183481del , CM000665.1:g.10183443_10183481del	GRCh37
NC_000003.10:g.10158443_10158481del	NCBI36
NG_008212.3:g.5125_5163del , LRG_322:g.5125_5163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256474.2:c.-89_-51del	ENSP00000256474.2:n.-89_-51del
NM_000551.3:c.-89_-51del , LRG_322t1:c.-89_-51del	NP_000542.1:n.-89_-51del
NM_198156.2:c.-89_-51del	NP_937799.1:n.-89_-51del
NM_001354723.1:c.-89_-51del	NP_001341652.1:n.-89_-51del