Canonical Allele Identifier: CA645524747

Gene: VHL

Linked Data

• COSMIC: COSM17846

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142085_10142103del , CM000665.2:g.10142085_10142103del	GRCh38
NC_000003.11:g.10183769_10183787del , CM000665.1:g.10183769_10183787del	GRCh37
NC_000003.10:g.10158769_10158787del	NCBI36
NG_008212.3:g.5451_5469del , LRG_322:g.5451_5469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.238_256del	ENSP00000512434.1:p.Ser80ProfsTer?
ENST00000696143.1:c.238_256del	ENSP00000512435.1:p.Ser80ProfsTer?
ENST00000696153.1:c.238_256del	ENSP00000512444.1:p.Ser80ProfsTer?
ENST00000256474.3:c.238_256del MANE Select	ENSP00000256474.3:p.Ser80ProfsTer?
ENST00000256474.2:c.238_256del	ENSP00000256474.2:p.Ser80ProfsTer?
ENST00000345392.2:c.238_256del	ENSP00000344757.2:p.Ser80ProfsTer?
NM_000551.3:c.238_256del , LRG_322t1:c.238_256del	NP_000542.1:p.Ser80ProfsTer?
NM_198156.2:c.238_256del	NP_937799.1:p.Ser80ProfsTer?
XM_011534078.1:c.238_256del	XP_011532380.1:p.Ser80ProfsTer?
NM_001354723.1:c.238_256del	NP_001341652.1:p.Ser80ProfsTer?
NM_000551.4:c.238_256del MANE Select	NP_000542.1:p.Ser80ProfsTer?
NM_001354723.2:c.238_256del	NP_001341652.1:p.Ser80ProfsTer?
NM_198156.3:c.238_256del	NP_937799.1:p.Ser80ProfsTer?