Canonical Allele Identifier: CA645524997

Gene: VHL

Linked Data

• COSMIC: COSM17905

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146617_10146623del , CM000665.2:g.10146617_10146623del	GRCh38
NC_000003.11:g.10188301_10188307del , CM000665.1:g.10188301_10188307del	GRCh37
NC_000003.10:g.10163301_10163307del	NCBI36
NG_008212.3:g.9983_9989del , LRG_322:g.9983_9989del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*121_*127del	ENSP00000512434.1:n.*121_*127del
ENST00000696143.1:c.600-3170_600-3164del	ENSP00000512435.1:n.600-3170_600-3164del
ENST00000696153.1:c.444_450del	ENSP00000512444.1:p.Phe148LeufsTer19
ENST00000256474.3:c.444_450del MANE Select	ENSP00000256474.3:p.Phe148LeufsTer9
ENST00000256474.2:c.444_450del	ENSP00000256474.2:p.Phe148LeufsTer9
ENST00000345392.2:c.341-3170_341-3164del	ENSP00000344757.2:n.341-3170_341-3164del
ENST00000477538.1:n.580_586del
NM_000551.3:c.444_450del , LRG_322t1:c.444_450del	NP_000542.1:p.Phe148LeufsTer9
NM_198156.2:c.341-3170_341-3164del	NP_937799.1:n.341-3170_341-3164del
NM_001354723.1:c.*18-3170_*18-3164del	NP_001341652.1:n.*18-3170_*18-3164del
NM_000551.4:c.444_450del MANE Select	NP_000542.1:p.Phe148LeufsTer9
NM_001354723.2:c.*18-3170_*18-3164del	NP_001341652.1:n.*18-3170_*18-3164del
NM_198156.3:c.341-3170_341-3164del	NP_937799.1:n.341-3170_341-3164del