Canonical Allele Identifier: CA645524948

Gene: VHL

Linked Data

• COSMIC: COSM1169454

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146585_10146600del , CM000665.2:g.10146585_10146600del	GRCh38
NC_000003.11:g.10188269_10188284del , CM000665.1:g.10188269_10188284del	GRCh37
NC_000003.10:g.10163269_10163284del	NCBI36
NG_008212.3:g.9951_9966del , LRG_322:g.9951_9966del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*89_*104del	ENSP00000512434.1:n.*89_*104del
ENST00000696143.1:c.600-3202_600-3187del	ENSP00000512435.1:n.600-3202_600-3187del
ENST00000696153.1:c.412_427del	ENSP00000512444.1:p.Pro138ThrfsTer26
ENST00000256474.3:c.412_427del MANE Select	ENSP00000256474.3:p.Pro138ThrfsTer16
ENST00000256474.2:c.412_427del	ENSP00000256474.2:p.Pro138ThrfsTer16
ENST00000345392.2:c.341-3202_341-3187del	ENSP00000344757.2:n.341-3202_341-3187del
ENST00000477538.1:n.548_563del
NM_000551.3:c.412_427del , LRG_322t1:c.412_427del	NP_000542.1:p.Pro138ThrfsTer16
NM_198156.2:c.341-3202_341-3187del	NP_937799.1:n.341-3202_341-3187del
XM_011534078.1:c.*89_*104del	XP_011532380.1:n.*89_*104del
NM_001354723.1:c.*18-3202_*18-3187del	NP_001341652.1:n.*18-3202_*18-3187del
NM_000551.4:c.412_427del MANE Select	NP_000542.1:p.Pro138ThrfsTer16
NM_001354723.2:c.*18-3202_*18-3187del	NP_001341652.1:n.*18-3202_*18-3187del
NM_198156.3:c.341-3202_341-3187del	NP_937799.1:n.341-3202_341-3187del