Canonical Allele Identifier: CA70048113

Gene: VHL

Linked Data

• dbSNP Id: rs201670560
• MyVariant Identifiers: chr3:g.10186655_10186664del (hg19) ; chr3:g.10144971_10144980del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144973_10144982del , CM000665.2:g.10144973_10144982del	GRCh38
NC_000003.11:g.10186657_10186666del , CM000665.1:g.10186657_10186666del	GRCh37
NC_000003.10:g.10161657_10161666del	NCBI36
NG_008212.3:g.8339_8348del , LRG_322:g.8339_8348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-1541_*18-1532del	ENSP00000512434.1:n.*18-1541_*18-1532del
ENST00000696143.1:c.599+1952_599+1961del	ENSP00000512435.1:n.599+1952_599+1961del
ENST00000696153.1:c.341-1541_341-1532del	ENSP00000512444.1:n.341-1541_341-1532del
ENST00000256474.3:c.341-1541_341-1532del MANE Select	ENSP00000256474.3:n.341-1541_341-1532del
ENST00000256474.2:c.341-1541_341-1532del	ENSP00000256474.2:n.341-1541_341-1532del
ENST00000345392.2:c.340+2786_340+2795del	ENSP00000344757.2:n.340+2786_340+2795del
ENST00000477538.1:n.477-1541_477-1532del
NM_000551.3:c.341-1541_341-1532del , LRG_322t1:c.341-1541_341-1532del	NP_000542.1:n.341-1541_341-1532del
NM_198156.2:c.340+2786_340+2795del	NP_937799.1:n.340+2786_340+2795del
XM_011534078.1:c.*18-1541_*18-1532del	XP_011532380.1:n.*18-1541_*18-1532del
NM_001354723.1:c.*17+1952_*17+1961del	NP_001341652.1:n.*17+1952_*17+1961del
NM_000551.4:c.341-1541_341-1532del MANE Select	NP_000542.1:n.341-1541_341-1532del
NM_001354723.2:c.*17+1952_*17+1961del	NP_001341652.1:n.*17+1952_*17+1961del
NM_198156.3:c.340+2786_340+2795del	NP_937799.1:n.340+2786_340+2795del