Canonical Allele Identifier: CA357071

Gene: VHL

Linked Data

• ClinVar Variation Id: 223195
• ClinVar RCV Id: RCV000208824
• dbSNP Id: rs869025638
• MyVariant Identifiers: chr3:g.10188198del (hg19) ; chr3:g.10146514del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146514del , CM000665.2:g.10146514del	GRCh38
NC_000003.11:g.10188198del , CM000665.1:g.10188198del	GRCh37
NC_000003.10:g.10163198del	NCBI36
NG_008212.3:g.9880del , LRG_322:g.9880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18del
ENST00000696143.1:c.600-3273del	ENSP00000512435.1:n.600-3273del
ENST00000696153.1:c.341del
ENST00000256474.3:c.341del
ENST00000256474.2:c.341del
ENST00000345392.2:c.341-3273del	ENSP00000344757.2:n.341-3273del
ENST00000477538.1:n.477del
NM_000551.3:c.341del , LRG_322t1:c.341del
NM_198156.2:c.341-3273del	NP_937799.1:n.341-3273del
XM_011534078.1:c.*18del
NM_001354723.1:c.*18-3273del	NP_001341652.1:n.*18-3273del
NM_000551.4:c.341del
NM_001354723.2:c.*18-3273del	NP_001341652.1:n.*18-3273del
NM_198156.3:c.341-3273del	NP_937799.1:n.341-3273del