Canonical Allele Identifier: CA10614860

Gene: VHL

Linked Data

• ClinVar Variation Id: 342460
• ClinVar RCV Id: RCV000278100
• dbSNP Id: rs886057730
• MyVariant Identifiers: chr3:g.10193739del (hg19) ; chr3:g.10152055del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152055del , CM000665.2:g.10152055del	GRCh38
NC_000003.11:g.10193739del , CM000665.1:g.10193739del	GRCh37
NC_000003.10:g.10168739del	NCBI36
NG_008212.3:g.15421del , LRG_322:g.15421del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696153.1:c.*2090del	ENSP00000512444.1:n.*2090del
ENST00000256474.3:c.*2090del MANE Select	ENSP00000256474.3:n.*2090del
ENST00000256474.2:c.*2090del	ENSP00000256474.2:n.*2090del
ENST00000345392.2:c.*2090del	ENSP00000344757.2:n.*2090del
NM_000551.3:c.*2090del , LRG_322t1:c.*2090del	NP_000542.1:n.*2090del
NM_198156.2:c.*2090del	NP_937799.1:n.*2090del
NM_001354723.1:c.*2286del	NP_001341652.1:n.*2286del
NM_000551.4:c.*2090del MANE Select	NP_000542.1:n.*2090del
NM_001354723.2:c.*2286del	NP_001341652.1:n.*2286del
NM_198156.3:c.*2090del	NP_937799.1:n.*2090del