Canonical Allele Identifier: CA1345058885

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146626_10146653delinsCACACTGCCAGGTACTGACGTTTTACTT , CM000665.2:g.10146626_10146653delinsCACACTGCCAGGTACTGACGTTTTACTT	GRCh38
NC_000003.11:g.10188310_10188337delinsCACACTGCCAGGTACTGACGTTTTACTT , CM000665.1:g.10188310_10188337delinsCACACTGCCAGGTACTGACGTTTTACTT	GRCh37
NC_000003.10:g.10163310_10163337delinsCACACTGCCAGGTACTGACGTTTTACTT	NCBI36
NG_008212.3:g.9992_10019delinsCACACTGCCAGGTACTGACGTTTTACTT , LRG_322:g.9992_10019delinsCACACTGCCAGGTACTGACGTTTTACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*130_*140+17delinsCACACTGCCAGGTACTGACGTTTTACTT
ENST00000696143.1:c.600-3161_600-3134delinsCACACTGCCAGGTACTGACGTTTTACTT	ENSP00000512435.1:n.600-3161_600-3134delinsCACACTGCCAGGTACTGA...
ENST00000696153.1:c.453_463+17delinsCACACTGCCAGGTACTGACGTTTTACTT
ENST00000256474.3:c.453_463+17delinsCACACTGCCAGGTACTGACGTTTTACTT
ENST00000256474.2:c.453_463+17delinsCACACTGCCAGGTACTGACGTTTTACTT
ENST00000345392.2:c.341-3161_341-3134delinsCACACTGCCAGGTACTGACGTTTTACTT	ENSP00000344757.2:n.341-3161_341-3134delinsCACACTGCCAGGTACTGA...
ENST00000477538.1:n.589_599+17delinsCACACTGCCAGGTACTGACGTTTTACTT
NM_000551.3:c.453_463+17delinsCACACTGCCAGGTACTGACGTTTTACTT , LRG_322t1:c.453_463+17delinsCACACTGCCAGGTACTGACGTTTTACTT
NM_198156.2:c.341-3161_341-3134delinsCACACTGCCAGGTACTGACGTTTTACTT	NP_937799.1:n.341-3161_341-3134delinsCACACTGCCAGGTACTGACGTTTT...
NM_001354723.1:c.*18-3161_*18-3134delinsCACACTGCCAGGTACTGACGTTTTACTT	NP_001341652.1:n.*18-3161_*18-3134delinsCACACTGCCAGGTACTGACGT...
NM_000551.4:c.453_463+17delinsCACACTGCCAGGTACTGACGTTTTACTT
NM_001354723.2:c.*18-3161_*18-3134delinsCACACTGCCAGGTACTGACGTTTTACTT	NP_001341652.1:n.*18-3161_*18-3134delinsCACACTGCCAGGTACTGACGT...
NM_198156.3:c.341-3161_341-3134delinsCACACTGCCAGGTACTGACGTTTTACTT	NP_937799.1:n.341-3161_341-3134delinsCACACTGCCAGGTACTGACGTTTT...