Canonical Allele Identifier: CA645524890

Gene: VHL

Linked Data

• COSMIC: COSM1731997

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146529_10146533del , CM000665.2:g.10146529_10146533del	GRCh38
NC_000003.11:g.10188213_10188217del , CM000665.1:g.10188213_10188217del	GRCh37
NC_000003.10:g.10163213_10163217del	NCBI36
NG_008212.3:g.9895_9899del , LRG_322:g.9895_9899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*33_*37del	ENSP00000512434.1:n.*33_*37del
ENST00000696143.1:c.600-3258_600-3254del	ENSP00000512435.1:n.600-3258_600-3254del
ENST00000696153.1:c.356_360del	ENSP00000512444.1:p.Phe119Ter
ENST00000256474.3:c.356_360del MANE Select	ENSP00000256474.3:p.Phe119Ter
ENST00000256474.2:c.356_360del	ENSP00000256474.2:p.Phe119Ter
ENST00000345392.2:c.341-3258_341-3254del	ENSP00000344757.2:n.341-3258_341-3254del
ENST00000477538.1:n.492_496del
NM_000551.3:c.356_360del , LRG_322t1:c.356_360del	NP_000542.1:p.Phe119Ter
NM_198156.2:c.341-3258_341-3254del	NP_937799.1:n.341-3258_341-3254del
XM_011534078.1:c.*33_*37del	XP_011532380.1:n.*33_*37del
NM_001354723.1:c.*18-3258_*18-3254del	NP_001341652.1:n.*18-3258_*18-3254del
NM_000551.4:c.356_360del MANE Select	NP_000542.1:p.Phe119Ter
NM_001354723.2:c.*18-3258_*18-3254del	NP_001341652.1:n.*18-3258_*18-3254del
NM_198156.3:c.341-3258_341-3254del	NP_937799.1:n.341-3258_341-3254del