Canonical Allele Identifier: CA1345069690

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146456_10146469delinsGGGCCACCGTGCCC , CM000665.2:g.10146456_10146469delinsGGGCCACCGTGCCC	GRCh38
NC_000003.11:g.10188140_10188153delinsGGGCCACCGTGCCC , CM000665.1:g.10188140_10188153delinsGGGCCACCGTGCCC	GRCh37
NC_000003.10:g.10163140_10163153delinsGGGCCACCGTGCCC	NCBI36
NG_008212.3:g.9822_9835delinsGGGCCACCGTGCCC , LRG_322:g.9822_9835delinsGGGCCACCGTGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-58_*18-45delinsGGGCCACCGTGCCC	ENSP00000512434.1:n.*18-58_*18-45delinsGGGCCACCGTGCCC
ENST00000696143.1:c.600-3331_600-3318delinsGGGCCACCGTGCCC	ENSP00000512435.1:n.600-3331_600-3318delinsGGGCCACCGTGCCC
ENST00000696153.1:c.341-58_341-45delinsGGGCCACCGTGCCC	ENSP00000512444.1:n.341-58_341-45delinsGGGCCACCGTGCCC
ENST00000256474.3:c.341-58_341-45delinsGGGCCACCGTGCCC MANE Select	ENSP00000256474.3:n.341-58_341-45delinsGGGCCACCGTGCCC
ENST00000256474.2:c.341-58_341-45delinsGGGCCACCGTGCCC	ENSP00000256474.2:n.341-58_341-45delinsGGGCCACCGTGCCC
ENST00000345392.2:c.341-3331_341-3318delinsGGGCCACCGTGCCC	ENSP00000344757.2:n.341-3331_341-3318delinsGGGCCACCGTGCCC
ENST00000477538.1:n.477-58_477-45delinsGGGCCACCGTGCCC
NM_000551.3:c.341-58_341-45delinsGGGCCACCGTGCCC , LRG_322t1:c.341-58_341-45delinsGGGCCACCGTGCCC	NP_000542.1:n.341-58_341-45delinsGGGCCACCGTGCCC
NM_198156.2:c.341-3331_341-3318delinsGGGCCACCGTGCCC	NP_937799.1:n.341-3331_341-3318delinsGGGCCACCGTGCCC
XM_011534078.1:c.*18-58_*18-45delinsGGGCCACCGTGCCC	XP_011532380.1:n.*18-58_*18-45delinsGGGCCACCGTGCCC
NM_001354723.1:c.*18-3331_*18-3318delinsGGGCCACCGTGCCC	NP_001341652.1:n.*18-3331_*18-3318delinsGGGCCACCGTGCCC
NM_000551.4:c.341-58_341-45delinsGGGCCACCGTGCCC MANE Select	NP_000542.1:n.341-58_341-45delinsGGGCCACCGTGCCC
NM_001354723.2:c.*18-3331_*18-3318delinsGGGCCACCGTGCCC	NP_001341652.1:n.*18-3331_*18-3318delinsGGGCCACCGTGCCC
NM_198156.3:c.341-3331_341-3318delinsGGGCCACCGTGCCC	NP_937799.1:n.341-3331_341-3318delinsGGGCCACCGTGCCC