Canonical Allele Identifier: CA020542

Gene: VHL

Linked Data

• ClinVar Variation Id: 166561
• ClinVar RCV Id: RCV000152657
• dbSNP Id: rs727503744
• MyVariant Identifiers: chr3:g.10183457_10183477del (hg19) ; chr3:g.10141773_10141793del (hg38)
• PubMed: PMID:12114475 ; PMID:18836774 ; PMID:22357542

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141773_10141793del , CM000665.2:g.10141773_10141793del	GRCh38
NC_000003.11:g.10183457_10183477del , CM000665.1:g.10183457_10183477del	GRCh37
NC_000003.10:g.10158457_10158477del	NCBI36
NG_008212.3:g.5139_5159del , LRG_322:g.5139_5159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256474.2:c.-75_-55del	ENSP00000256474.2:n.-75_-55del
NM_000551.3:c.-75_-55del , LRG_322t1:c.-75_-55del	NP_000542.1:n.-75_-55del
NM_198156.2:c.-75_-55del	NP_937799.1:n.-75_-55del
XM_011534078.1:c.-75_-55del	XP_011532380.1:n.-75_-55del
NM_001354723.1:c.-75_-55del	NP_001341652.1:n.-75_-55del