Canonical Allele Identifier: CA2497030272

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146516_10146568dup , CM000665.2:g.10146516_10146568dup	GRCh38
NC_000003.11:g.10188200_10188252dup , CM000665.1:g.10188200_10188252dup	GRCh37
NC_000003.10:g.10163200_10163252dup	NCBI36
NG_008212.3:g.9882_9934dup , LRG_322:g.9882_9934dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*20_*72dup	ENSP00000512434.1:n.*20_*72dup
ENST00000696143.1:c.600-3271_600-3219dup	ENSP00000512435.1:n.600-3271_600-3219dup
ENST00000696153.1:c.343_395dup	ENSP00000512444.1:p.Gln132HisfsTer?
ENST00000256474.3:c.343_395dup MANE Select	ENSP00000256474.3:p.Gln132HisfsTer45
ENST00000256474.2:c.343_395dup	ENSP00000256474.2:p.Gln132HisfsTer45
ENST00000345392.2:c.341-3271_341-3219dup	ENSP00000344757.2:n.341-3271_341-3219dup
ENST00000477538.1:n.479_531dup
NM_000551.3:c.343_395dup , LRG_322t1:c.343_395dup	NP_000542.1:p.Gln132HisfsTer45
NM_198156.2:c.341-3271_341-3219dup	NP_937799.1:n.341-3271_341-3219dup
XM_011534078.1:c.*20_*72dup	XP_011532380.1:n.*20_*72dup
NM_001354723.1:c.*18-3271_*18-3219dup	NP_001341652.1:n.*18-3271_*18-3219dup
NM_000551.4:c.343_395dup MANE Select	NP_000542.1:p.Gln132HisfsTer45
NM_001354723.2:c.*18-3271_*18-3219dup	NP_001341652.1:n.*18-3271_*18-3219dup
NM_198156.3:c.341-3271_341-3219dup	NP_937799.1:n.341-3271_341-3219dup