Canonical Allele Identifier: CA645524951

Gene: VHL

Linked Data

• COSMIC: COSM307757

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146589_10146596del , CM000665.2:g.10146589_10146596del	GRCh38
NC_000003.11:g.10188273_10188280del , CM000665.1:g.10188273_10188280del	GRCh37
NC_000003.10:g.10163273_10163280del	NCBI36
NG_008212.3:g.9955_9962del , LRG_322:g.9955_9962del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*93_*100del	ENSP00000512434.1:n.*93_*100del
ENST00000696143.1:c.600-3198_600-3191del	ENSP00000512435.1:n.600-3198_600-3191del
ENST00000696153.1:c.416_423del	ENSP00000512444.1:p.Ser139CysfsTer2
ENST00000256474.3:c.416_423del MANE Select	ENSP00000256474.3:p.Ser139CysfsTer2
ENST00000256474.2:c.416_423del	ENSP00000256474.2:p.Ser139CysfsTer2
ENST00000345392.2:c.341-3198_341-3191del	ENSP00000344757.2:n.341-3198_341-3191del
ENST00000477538.1:n.552_559del
NM_000551.3:c.416_423del , LRG_322t1:c.416_423del	NP_000542.1:p.Ser139CysfsTer2
NM_198156.2:c.341-3198_341-3191del	NP_937799.1:n.341-3198_341-3191del
XM_011534078.1:c.*93_*100del	XP_011532380.1:n.*93_*100del
NM_001354723.1:c.*18-3198_*18-3191del	NP_001341652.1:n.*18-3198_*18-3191del
NM_000551.4:c.416_423del MANE Select	NP_000542.1:p.Ser139CysfsTer2
NM_001354723.2:c.*18-3198_*18-3191del	NP_001341652.1:n.*18-3198_*18-3191del
NM_198156.3:c.341-3198_341-3191del	NP_937799.1:n.341-3198_341-3191del