Canonical Allele Identifier: CA645524903

Gene: VHL

Linked Data

• COSMIC: COSM18111

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146539_10146540del , CM000665.2:g.10146539_10146540del	GRCh38
NC_000003.11:g.10188223_10188224del , CM000665.1:g.10188223_10188224del	GRCh37
NC_000003.10:g.10163223_10163224del	NCBI36
NG_008212.3:g.9905_9906del , LRG_322:g.9905_9906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*43_*44del	ENSP00000512434.1:n.*43_*44del
ENST00000696143.1:c.600-3248_600-3247del	ENSP00000512435.1:n.600-3248_600-3247del
ENST00000696153.1:c.366_367del	ENSP00000512444.1:p.Gly123AspfsTer8
ENST00000256474.3:c.366_367del MANE Select	ENSP00000256474.3:p.Gly123AspfsTer8
ENST00000256474.2:c.366_367del	ENSP00000256474.2:p.Gly123AspfsTer8
ENST00000345392.2:c.341-3248_341-3247del	ENSP00000344757.2:n.341-3248_341-3247del
ENST00000477538.1:n.502_503del
NM_000551.3:c.366_367del , LRG_322t1:c.366_367del	NP_000542.1:p.Gly123AspfsTer8
NM_198156.2:c.341-3248_341-3247del	NP_937799.1:n.341-3248_341-3247del
XM_011534078.1:c.*43_*44del	XP_011532380.1:n.*43_*44del
NM_001354723.1:c.*18-3248_*18-3247del	NP_001341652.1:n.*18-3248_*18-3247del
NM_000551.4:c.366_367del MANE Select	NP_000542.1:p.Gly123AspfsTer8
NM_001354723.2:c.*18-3248_*18-3247del	NP_001341652.1:n.*18-3248_*18-3247del
NM_198156.3:c.341-3248_341-3247del	NP_937799.1:n.341-3248_341-3247del