Canonical Allele Identifier: CA432421780

Gene: VHL

Linked Data

• COSMIC: COSM1731996
• MyVariant Identifiers: chr3:g.10188198_10188199insG (hg19)

Genomic Alleles

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

Transcript Alleles

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