Canonical Allele Identifier: CA645524856

Gene: VHL

Linked Data

• COSMIC: COSM18048

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142178_10142187del , CM000665.2:g.10142178_10142187del	GRCh38
NC_000003.11:g.10183862_10183871del , CM000665.1:g.10183862_10183871del	GRCh37
NC_000003.10:g.10158862_10158871del	NCBI36
NG_008212.3:g.5544_5553del , LRG_322:g.5544_5553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.331_340del	ENSP00000512434.1:p.Tyr112SerfsTer2
ENST00000696143.1:c.331_340del	ENSP00000512435.1:p.Tyr112SerfsTer2
ENST00000696153.1:c.331_340del	ENSP00000512444.1:p.Ser111ValfsTer?
ENST00000256474.3:c.331_340del MANE Select	ENSP00000256474.3:p.Ser111ValfsTer?
ENST00000256474.2:c.331_340del	ENSP00000256474.2:p.Ser111ValfsTer?
ENST00000345392.2:c.331_340del	ENSP00000344757.2:p.Ser111CysfsTer4
NM_000551.3:c.331_340del , LRG_322t1:c.331_340del	NP_000542.1:p.Ser111ValfsTer?
NM_198156.2:c.331_340del	NP_937799.1:p.Ser111CysfsTer4
XM_011534078.1:c.331_340del	XP_011532380.1:p.Tyr112SerfsTer2
NM_001354723.1:c.331_340del	NP_001341652.1:p.Tyr112SerfsTer2
NM_000551.4:c.331_340del MANE Select	NP_000542.1:p.Ser111ValfsTer?
NM_001354723.2:c.331_340del	NP_001341652.1:p.Tyr112SerfsTer2
NM_198156.3:c.331_340del	NP_937799.1:p.Ser111CysfsTer4