Canonical Allele Identifier: CA645524976

Gene: VHL

Linked Data

• COSMIC: COSM253371

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146603_10146604del , CM000665.2:g.10146603_10146604del	GRCh38
NC_000003.11:g.10188287_10188288del , CM000665.1:g.10188287_10188288del	GRCh37
NC_000003.10:g.10163287_10163288del	NCBI36
NG_008212.3:g.9969_9970del , LRG_322:g.9969_9970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*107_*108del	ENSP00000512434.1:n.*107_*108del
ENST00000696143.1:c.600-3184_600-3183del	ENSP00000512435.1:n.600-3184_600-3183del
ENST00000696153.1:c.430_431del	ENSP00000512444.1:p.Gly144ThrfsTer?
ENST00000256474.3:c.430_431del MANE Select	ENSP00000256474.3:p.Gly144ThrfsTer29
ENST00000256474.2:c.430_431del	ENSP00000256474.2:p.Gly144ThrfsTer29
ENST00000345392.2:c.341-3184_341-3183del	ENSP00000344757.2:n.341-3184_341-3183del
ENST00000477538.1:n.566_567del
NM_000551.3:c.430_431del , LRG_322t1:c.430_431del	NP_000542.1:p.Gly144ThrfsTer29
NM_198156.2:c.341-3184_341-3183del	NP_937799.1:n.341-3184_341-3183del
NM_001354723.1:c.*18-3184_*18-3183del	NP_001341652.1:n.*18-3184_*18-3183del
NM_000551.4:c.430_431del MANE Select	NP_000542.1:p.Gly144ThrfsTer29
NM_001354723.2:c.*18-3184_*18-3183del	NP_001341652.1:n.*18-3184_*18-3183del
NM_198156.3:c.341-3184_341-3183del	NP_937799.1:n.341-3184_341-3183del