Canonical Allele Identifier: CA2499306942

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149787_10149791del , CM000665.2:g.10149787_10149791del	GRCh38
NC_000003.11:g.10191471_10191475del , CM000665.1:g.10191471_10191475del	GRCh37
NC_000003.10:g.10166471_10166475del	NCBI36
NG_008212.3:g.13153_13157del , LRG_322:g.13153_13157del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141_*145del	ENSP00000512434.1:n.*141_*145del
ENST00000696143.1:c.600_604del	ENSP00000512435.1:n.600_604del
ENST00000696153.1:c.575_579del	ENSP00000512444.1:p.Val192AspfsTer17
ENST00000256474.3:c.464_468del MANE Select	ENSP00000256474.3:p.Val155AspfsTer17
ENST00000256474.2:c.464_468del	ENSP00000256474.2:p.Val155AspfsTer17
ENST00000345392.2:c.341_345del	ENSP00000344757.2:p.Val114AspfsTer17
ENST00000477538.1:n.600_604del
NM_000551.3:c.464_468del , LRG_322t1:c.464_468del	NP_000542.1:p.Val155AspfsTer17
NM_198156.2:c.341_345del	NP_937799.1:p.Val114AspfsTer17
NM_001354723.1:c.*18_*22del	NP_001341652.1:n.*18_*22del
NM_000551.4:c.464_468del MANE Select	NP_000542.1:p.Val155AspfsTer17
NM_001354723.2:c.*18_*22del	NP_001341652.1:n.*18_*22del
NM_198156.3:c.341_345del	NP_937799.1:p.Val114AspfsTer17