Canonical Allele Identifier: CA1345058863

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146622_10146637delinsATATCACACTGCCAGG , CM000665.2:g.10146622_10146637delinsATATCACACTGCCAGG	GRCh38
NC_000003.11:g.10188306_10188321delinsATATCACACTGCCAGG , CM000665.1:g.10188306_10188321delinsATATCACACTGCCAGG	GRCh37
NC_000003.10:g.10163306_10163321delinsATATCACACTGCCAGG	NCBI36
NG_008212.3:g.9988_10003delinsATATCACACTGCCAGG , LRG_322:g.9988_10003delinsATATCACACTGCCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*126_*140+1delinsATATCACACTGCCAGG
ENST00000696143.1:c.600-3165_600-3150delinsATATCACACTGCCAGG	ENSP00000512435.1:n.600-3165_600-3150delinsATATCACACTGCCAGG
ENST00000696153.1:c.449_463+1delinsATATCACACTGCCAGG
ENST00000256474.3:c.449_463+1delinsATATCACACTGCCAGG
ENST00000256474.2:c.449_463+1delinsATATCACACTGCCAGG
ENST00000345392.2:c.341-3165_341-3150delinsATATCACACTGCCAGG	ENSP00000344757.2:n.341-3165_341-3150delinsATATCACACTGCCAGG
ENST00000477538.1:n.585_599+1delinsATATCACACTGCCAGG
NM_000551.3:c.449_463+1delinsATATCACACTGCCAGG , LRG_322t1:c.449_463+1delinsATATCACACTGCCAGG
NM_198156.2:c.341-3165_341-3150delinsATATCACACTGCCAGG	NP_937799.1:n.341-3165_341-3150delinsATATCACACTGCCAGG
NM_001354723.1:c.*18-3165_*18-3150delinsATATCACACTGCCAGG	NP_001341652.1:n.*18-3165_*18-3150delinsATATCACACTGCCAGG
NM_000551.4:c.449_463+1delinsATATCACACTGCCAGG
NM_001354723.2:c.*18-3165_*18-3150delinsATATCACACTGCCAGG	NP_001341652.1:n.*18-3165_*18-3150delinsATATCACACTGCCAGG
NM_198156.3:c.341-3165_341-3150delinsATATCACACTGCCAGG	NP_937799.1:n.341-3165_341-3150delinsATATCACACTGCCAGG