Canonical Allele Identifier: CA1345069710

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146489_10146492delinsTAAC , CM000665.2:g.10146489_10146492delinsTAAC	GRCh38
NC_000003.11:g.10188173_10188176delinsTAAC , CM000665.1:g.10188173_10188176delinsTAAC	GRCh37
NC_000003.10:g.10163173_10163176delinsTAAC	NCBI36
NG_008212.3:g.9855_9858delinsTAAC , LRG_322:g.9855_9858delinsTAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-25_*18-22delinsTAAC	ENSP00000512434.1:n.*18-25_*18-22delinsTAAC
ENST00000696143.1:c.600-3298_600-3295delinsTAAC	ENSP00000512435.1:n.600-3298_600-3295delinsTAAC
ENST00000696153.1:c.341-25_341-22delinsTAAC	ENSP00000512444.1:n.341-25_341-22delinsTAAC
ENST00000256474.3:c.341-25_341-22delinsTAAC MANE Select	ENSP00000256474.3:n.341-25_341-22delinsTAAC
ENST00000256474.2:c.341-25_341-22delinsTAAC	ENSP00000256474.2:n.341-25_341-22delinsTAAC
ENST00000345392.2:c.341-3298_341-3295delinsTAAC	ENSP00000344757.2:n.341-3298_341-3295delinsTAAC
ENST00000477538.1:n.477-25_477-22delinsTAAC
NM_000551.3:c.341-25_341-22delinsTAAC , LRG_322t1:c.341-25_341-22delinsTAAC	NP_000542.1:n.341-25_341-22delinsTAAC
NM_198156.2:c.341-3298_341-3295delinsTAAC	NP_937799.1:n.341-3298_341-3295delinsTAAC
XM_011534078.1:c.*18-25_*18-22delinsTAAC	XP_011532380.1:n.*18-25_*18-22delinsTAAC
NM_001354723.1:c.*18-3298_*18-3295delinsTAAC	NP_001341652.1:n.*18-3298_*18-3295delinsTAAC
NM_000551.4:c.341-25_341-22delinsTAAC MANE Select	NP_000542.1:n.341-25_341-22delinsTAAC
NM_001354723.2:c.*18-3298_*18-3295delinsTAAC	NP_001341652.1:n.*18-3298_*18-3295delinsTAAC
NM_198156.3:c.341-3298_341-3295delinsTAAC	NP_937799.1:n.341-3298_341-3295delinsTAAC