Canonical Allele Identifier: CA645524981

Gene: VHL

Linked Data

• COSMIC: COSM17650

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146610_10146623del , CM000665.2:g.10146610_10146623del	GRCh38
NC_000003.11:g.10188294_10188307del , CM000665.1:g.10188294_10188307del	GRCh37
NC_000003.10:g.10163294_10163307del	NCBI36
NG_008212.3:g.9976_9989del , LRG_322:g.9976_9989del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*114_*127del	ENSP00000512434.1:n.*114_*127del
ENST00000696143.1:c.600-3177_600-3164del	ENSP00000512435.1:n.600-3177_600-3164del
ENST00000696153.1:c.437_450del	ENSP00000512444.1:p.Pro146HisfsTer?
ENST00000256474.3:c.437_450del MANE Select	ENSP00000256474.3:p.Pro146HisfsTer23
ENST00000256474.2:c.437_450del	ENSP00000256474.2:p.Pro146HisfsTer23
ENST00000345392.2:c.341-3177_341-3164del	ENSP00000344757.2:n.341-3177_341-3164del
ENST00000477538.1:n.573_586del
NM_000551.3:c.437_450del , LRG_322t1:c.437_450del	NP_000542.1:p.Pro146HisfsTer23
NM_198156.2:c.341-3177_341-3164del	NP_937799.1:n.341-3177_341-3164del
NM_001354723.1:c.*18-3177_*18-3164del	NP_001341652.1:n.*18-3177_*18-3164del
NM_000551.4:c.437_450del MANE Select	NP_000542.1:p.Pro146HisfsTer23
NM_001354723.2:c.*18-3177_*18-3164del	NP_001341652.1:n.*18-3177_*18-3164del
NM_198156.3:c.341-3177_341-3164del	NP_937799.1:n.341-3177_341-3164del