Canonical Allele Identifier: CA1345068709

Gene: VHL

Linked Data

• dbSNP Id: rs1696207909

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144558_10144571del , CM000665.2:g.10144558_10144571del	GRCh38
NC_000003.11:g.10186242_10186255del , CM000665.1:g.10186242_10186255del	GRCh37
NC_000003.10:g.10161242_10161255del	NCBI36
NG_008212.3:g.7924_7937del , LRG_322:g.7924_7937del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*17+1537_*17+1550del	ENSP00000512434.1:n.*17+1537_*17+1550del
ENST00000696143.1:c.599+1537_599+1550del	ENSP00000512435.1:n.599+1537_599+1550del
ENST00000696153.1:c.341-1956_341-1943del	ENSP00000512444.1:n.341-1956_341-1943del
ENST00000256474.3:c.341-1956_341-1943del MANE Select	ENSP00000256474.3:n.341-1956_341-1943del
ENST00000256474.2:c.341-1956_341-1943del	ENSP00000256474.2:n.341-1956_341-1943del
ENST00000345392.2:c.340+2371_340+2384del	ENSP00000344757.2:n.340+2371_340+2384del
ENST00000477538.1:n.476+1537_476+1550del
NM_000551.3:c.341-1956_341-1943del , LRG_322t1:c.341-1956_341-1943del	NP_000542.1:n.341-1956_341-1943del
NM_198156.2:c.340+2371_340+2384del	NP_937799.1:n.340+2371_340+2384del
XM_011534078.1:c.*17+1537_*17+1550del	XP_011532380.1:n.*17+1537_*17+1550del
NM_001354723.1:c.*17+1537_*17+1550del	NP_001341652.1:n.*17+1537_*17+1550del
NM_000551.4:c.341-1956_341-1943del MANE Select	NP_000542.1:n.341-1956_341-1943del
NM_001354723.2:c.*17+1537_*17+1550del	NP_001341652.1:n.*17+1537_*17+1550del
NM_198156.3:c.340+2371_340+2384del	NP_937799.1:n.340+2371_340+2384del