Canonical Allele Identifier: CA2586965636

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146567_10146571del , CM000665.2:g.10146567_10146571del	GRCh38
NC_000003.11:g.10188251_10188255del , CM000665.1:g.10188251_10188255del	GRCh37
NC_000003.10:g.10163251_10163255del	NCBI36
NG_008212.3:g.9933_9937del , LRG_322:g.9933_9937del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*71_*75del	ENSP00000512434.1:n.*71_*75del
ENST00000696143.1:c.600-3220_600-3216del	ENSP00000512435.1:n.600-3220_600-3216del
ENST00000696153.1:c.394_398del	ENSP00000512444.1:p.Gln132Ter
ENST00000256474.3:c.394_398del MANE Select	ENSP00000256474.3:p.Gln132Ter
ENST00000256474.2:c.394_398del	ENSP00000256474.2:p.Gln132Ter
ENST00000345392.2:c.341-3220_341-3216del	ENSP00000344757.2:n.341-3220_341-3216del
ENST00000477538.1:n.530_534del
NM_000551.3:c.394_398del , LRG_322t1:c.394_398del	NP_000542.1:p.Gln132Ter
NM_198156.2:c.341-3220_341-3216del	NP_937799.1:n.341-3220_341-3216del
XM_011534078.1:c.*71_*75del	XP_011532380.1:n.*71_*75del
NM_001354723.1:c.*18-3220_*18-3216del	NP_001341652.1:n.*18-3220_*18-3216del
NM_000551.4:c.394_398del MANE Select	NP_000542.1:p.Gln132Ter
NM_001354723.2:c.*18-3220_*18-3216del	NP_001341652.1:n.*18-3220_*18-3216del
NM_198156.3:c.341-3220_341-3216del	NP_937799.1:n.341-3220_341-3216del