Canonical Allele Identifier: CA916832707

Gene: VHL

Linked Data

• dbSNP Id: rs1553619992

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146624_10146637delinsCACACTGCCA , CM000665.2:g.10146624_10146637delinsCACACTGCCA	GRCh38
NC_000003.11:g.10188308_10188321delinsCACACTGCCA , CM000665.1:g.10188308_10188321delinsCACACTGCCA	GRCh37
NC_000003.10:g.10163308_10163321delinsCACACTGCCA	NCBI36
NG_008212.3:g.9990_10003delinsCACACTGCCA , LRG_322:g.9990_10003delinsCACACTGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*128_*140+1delinsCACACTGCCA
ENST00000696143.1:c.600-3163_600-3150delinsCACACTGCCA	ENSP00000512435.1:n.600-3163_600-3150delinsCACACTGCCA
ENST00000696153.1:c.451_463+1delinsCACACTGCCA
ENST00000256474.3:c.451_463+1delinsCACACTGCCA
ENST00000256474.2:c.451_463+1delinsCACACTGCCA
ENST00000345392.2:c.341-3163_341-3150delinsCACACTGCCA	ENSP00000344757.2:n.341-3163_341-3150delinsCACACTGCCA
ENST00000477538.1:n.587_599+1delinsCACACTGCCA
NM_000551.3:c.451_463+1delinsCACACTGCCA , LRG_322t1:c.451_463+1delinsCACACTGCCA
NM_198156.2:c.341-3163_341-3150delinsCACACTGCCA	NP_937799.1:n.341-3163_341-3150delinsCACACTGCCA
NM_001354723.1:c.*18-3163_*18-3150delinsCACACTGCCA	NP_001341652.1:n.*18-3163_*18-3150delinsCACACTGCCA
NM_000551.4:c.451_463+1delinsCACACTGCCA
NM_001354723.2:c.*18-3163_*18-3150delinsCACACTGCCA	NP_001341652.1:n.*18-3163_*18-3150delinsCACACTGCCA
NM_198156.3:c.341-3163_341-3150delinsCACACTGCCA	NP_937799.1:n.341-3163_341-3150delinsCACACTGCCA