Canonical Allele Identifier: CA913189240

Gene: VHL

Linked Data

• CIViC: CA913189240

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146544_10146550del , CM000665.2:g.10146544_10146550del	GRCh38
NC_000003.11:g.10188228_10188234del , CM000665.1:g.10188228_10188234del	GRCh37
NC_000003.10:g.10163228_10163234del	NCBI36
NG_008212.3:g.9910_9916del , LRG_322:g.9910_9916del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*48_*54del	ENSP00000512434.1:n.*48_*54del
ENST00000696143.1:c.600-3243_600-3237del	ENSP00000512435.1:n.600-3243_600-3237del
ENST00000696153.1:c.371_377del	ENSP00000512444.1:p.Thr124MetfsTer?
ENST00000256474.3:c.371_377del MANE Select	ENSP00000256474.3:p.Thr124MetfsTer?
ENST00000256474.2:c.371_377del	ENSP00000256474.2:p.Thr124MetfsTer?
ENST00000345392.2:c.341-3243_341-3237del	ENSP00000344757.2:n.341-3243_341-3237del
ENST00000477538.1:n.507_513del
NM_000551.3:c.371_377del , LRG_322t1:c.371_377del	NP_000542.1:p.Thr124MetfsTer?
NM_198156.2:c.341-3243_341-3237del	NP_937799.1:n.341-3243_341-3237del
XM_011534078.1:c.*48_*54del	XP_011532380.1:n.*48_*54del
NM_001354723.1:c.*18-3243_*18-3237del	NP_001341652.1:n.*18-3243_*18-3237del
NM_000551.4:c.371_377del MANE Select	NP_000542.1:p.Thr124MetfsTer?
NM_001354723.2:c.*18-3243_*18-3237del	NP_001341652.1:n.*18-3243_*18-3237del
NM_198156.3:c.341-3243_341-3237del	NP_937799.1:n.341-3243_341-3237del