Canonical Allele Identifier: CA645524979

Gene: VHL

Linked Data

• COSMIC: COSM14287

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146608_10146611del , CM000665.2:g.10146608_10146611del	GRCh38
NC_000003.11:g.10188292_10188295del , CM000665.1:g.10188292_10188295del	GRCh37
NC_000003.10:g.10163292_10163295del	NCBI36
NG_008212.3:g.9974_9977del , LRG_322:g.9974_9977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*112_*115del	ENSP00000512434.1:n.*112_*115del
ENST00000696143.1:c.600-3179_600-3176del	ENSP00000512435.1:n.600-3179_600-3176del
ENST00000696153.1:c.435_438del	ENSP00000512444.1:p.Pro146PhefsTer22
ENST00000256474.3:c.435_438del MANE Select	ENSP00000256474.3:p.Pro146PhefsTer12
ENST00000256474.2:c.435_438del	ENSP00000256474.2:p.Pro146PhefsTer12
ENST00000345392.2:c.341-3179_341-3176del	ENSP00000344757.2:n.341-3179_341-3176del
ENST00000477538.1:n.571_574del
NM_000551.3:c.435_438del , LRG_322t1:c.435_438del	NP_000542.1:p.Pro146PhefsTer12
NM_198156.2:c.341-3179_341-3176del	NP_937799.1:n.341-3179_341-3176del
NM_001354723.1:c.*18-3179_*18-3176del	NP_001341652.1:n.*18-3179_*18-3176del
NM_000551.4:c.435_438del MANE Select	NP_000542.1:p.Pro146PhefsTer12
NM_001354723.2:c.*18-3179_*18-3176del	NP_001341652.1:n.*18-3179_*18-3176del
NM_198156.3:c.341-3179_341-3176del	NP_937799.1:n.341-3179_341-3176del