Canonical Allele Identifier: CA2586965646

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146627dup , CM000665.2:g.10146627dup	GRCh38
NC_000003.11:g.10188311dup , CM000665.1:g.10188311dup	GRCh37
NC_000003.10:g.10163311dup	NCBI36
NG_008212.3:g.9993dup , LRG_322:g.9993dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*131dup	ENSP00000512434.1:n.*131dup
ENST00000696143.1:c.600-3160dup	ENSP00000512435.1:n.600-3160dup
ENST00000696153.1:c.454dup	ENSP00000512444.1:p.Thr152AsnfsTer?
ENST00000256474.3:c.454dup MANE Select	ENSP00000256474.3:p.Thr152AsnfsTer22
ENST00000256474.2:c.454dup	ENSP00000256474.2:p.Thr152AsnfsTer22
ENST00000345392.2:c.341-3160dup	ENSP00000344757.2:n.341-3160dup
ENST00000477538.1:n.590dup
NM_000551.3:c.454dup , LRG_322t1:c.454dup	NP_000542.1:p.Thr152AsnfsTer22
NM_198156.2:c.341-3160dup	NP_937799.1:n.341-3160dup
NM_001354723.1:c.*18-3160dup	NP_001341652.1:n.*18-3160dup
NM_000551.4:c.454dup MANE Select	NP_000542.1:p.Thr152AsnfsTer22
NM_001354723.2:c.*18-3160dup	NP_001341652.1:n.*18-3160dup
NM_198156.3:c.341-3160dup	NP_937799.1:n.341-3160dup