Canonical Allele Identifier: CA020343

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146581del , CM000665.2:g.10146581del	GRCh38
NC_000003.11:g.10188265del , CM000665.1:g.10188265del	GRCh37
NC_000003.10:g.10163265del	NCBI36
NG_008212.3:g.9947del , LRG_322:g.9947del

Transcript Alleles

HGVS	Amino-acid Change
NM_000551.4:c.408del MANE Select	NP_000542.1:p.Phe136LeufsTer23
ENST00000256474.3:c.408del MANE Select	ENSP00000256474.3:p.Phe136LeufsTer23
NM_000551.3:c.408del , LRG_322t1:c.408del	NP_000542.1:p.Phe136LeufsTer23
NM_001354723.1:c.*18-3206del	NP_001341652.1:n.*18-3206del
NM_001354723.2:c.*18-3206del	NP_001341652.1:n.*18-3206del
NM_198156.2:c.341-3206del	NP_937799.1:n.341-3206del
NM_198156.3:c.341-3206del	NP_937799.1:n.341-3206del
ENST00000256474.2:c.408del	ENSP00000256474.2:p.Phe136LeufsTer23
ENST00000345392.2:c.341-3206del	ENSP00000344757.2:n.341-3206del
ENST00000477538.1:n.544del
ENST00000696142.1:c.*85del	ENSP00000512434.1:n.*85del
ENST00000696143.1:c.600-3206del	ENSP00000512435.1:n.600-3206del
ENST00000696153.1:c.408del	ENSP00000512444.1:p.Phe136LeufsTer?
XM_011534078.1:c.*85del	XP_011532380.1:n.*85del