Canonical Allele Identifier: CA1139532107

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146506_10146521del , CM000665.2:g.10146506_10146521del	GRCh38
NC_000003.11:g.10188190_10188205del , CM000665.1:g.10188190_10188205del	GRCh37
NC_000003.10:g.10163190_10163205del	NCBI36
NG_008212.3:g.9872_9887del , LRG_322:g.9872_9887del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-8_*25del
ENST00000696143.1:c.600-3281_600-3266del	ENSP00000512435.1:n.600-3281_600-3266del
ENST00000696153.1:c.341-8_348del
ENST00000256474.3:c.341-8_348del
ENST00000256474.2:c.341-8_348del
ENST00000345392.2:c.341-3281_341-3266del	ENSP00000344757.2:n.341-3281_341-3266del
ENST00000477538.1:n.477-8_484del
NM_000551.3:c.341-8_348del , LRG_322t1:c.341-8_348del
NM_198156.2:c.341-3281_341-3266del	NP_937799.1:n.341-3281_341-3266del
XM_011534078.1:c.*18-8_*25del
NM_001354723.1:c.*18-3281_*18-3266del	NP_001341652.1:n.*18-3281_*18-3266del
NM_000551.4:c.341-8_348del
NM_001354723.2:c.*18-3281_*18-3266del	NP_001341652.1:n.*18-3281_*18-3266del
NM_198156.3:c.341-3281_341-3266del	NP_937799.1:n.341-3281_341-3266del