Canonical Allele Identifier: CA1345058971

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146651_10146652delinsCT , CM000665.2:g.10146651_10146652delinsCT	GRCh38
NC_000003.11:g.10188335_10188336delinsCT , CM000665.1:g.10188335_10188336delinsCT	GRCh37
NC_000003.10:g.10163335_10163336delinsCT	NCBI36
NG_008212.3:g.10017_10018delinsCT , LRG_322:g.10017_10018delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*140+15_*140+16delinsCT	ENSP00000512434.1:n.*140+15_*140+16delinsCT
ENST00000696143.1:c.600-3136_600-3135delinsCT	ENSP00000512435.1:n.600-3136_600-3135delinsCT
ENST00000696153.1:c.463+15_463+16delinsCT	ENSP00000512444.1:n.463+15_463+16delinsCT
ENST00000256474.3:c.463+15_463+16delinsCT MANE Select	ENSP00000256474.3:n.463+15_463+16delinsCT
ENST00000256474.2:c.463+15_463+16delinsCT	ENSP00000256474.2:n.463+15_463+16delinsCT
ENST00000345392.2:c.341-3136_341-3135delinsCT	ENSP00000344757.2:n.341-3136_341-3135delinsCT
ENST00000477538.1:n.599+15_599+16delinsCT
NM_000551.3:c.463+15_463+16delinsCT , LRG_322t1:c.463+15_463+16delinsCT	NP_000542.1:n.463+15_463+16delinsCT
NM_198156.2:c.341-3136_341-3135delinsCT	NP_937799.1:n.341-3136_341-3135delinsCT
NM_001354723.1:c.*18-3136_*18-3135delinsCT	NP_001341652.1:n.*18-3136_*18-3135delinsCT
NM_000551.4:c.463+15_463+16delinsCT MANE Select	NP_000542.1:n.463+15_463+16delinsCT
NM_001354723.2:c.*18-3136_*18-3135delinsCT	NP_001341652.1:n.*18-3136_*18-3135delinsCT
NM_198156.3:c.341-3136_341-3135delinsCT	NP_937799.1:n.341-3136_341-3135delinsCT