Canonical Allele Identifier: CA1345069711

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146492_10146497delinsCAACCT , CM000665.2:g.10146492_10146497delinsCAACCT	GRCh38
NC_000003.11:g.10188176_10188181delinsCAACCT , CM000665.1:g.10188176_10188181delinsCAACCT	GRCh37
NC_000003.10:g.10163176_10163181delinsCAACCT	NCBI36
NG_008212.3:g.9858_9863delinsCAACCT , LRG_322:g.9858_9863delinsCAACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-22_*18-17delinsCAACCT	ENSP00000512434.1:n.*18-22_*18-17delinsCAACCT
ENST00000696143.1:c.600-3295_600-3290delinsCAACCT	ENSP00000512435.1:n.600-3295_600-3290delinsCAACCT
ENST00000696153.1:c.341-22_341-17delinsCAACCT	ENSP00000512444.1:n.341-22_341-17delinsCAACCT
ENST00000256474.3:c.341-22_341-17delinsCAACCT MANE Select	ENSP00000256474.3:n.341-22_341-17delinsCAACCT
ENST00000256474.2:c.341-22_341-17delinsCAACCT	ENSP00000256474.2:n.341-22_341-17delinsCAACCT
ENST00000345392.2:c.341-3295_341-3290delinsCAACCT	ENSP00000344757.2:n.341-3295_341-3290delinsCAACCT
ENST00000477538.1:n.477-22_477-17delinsCAACCT
NM_000551.3:c.341-22_341-17delinsCAACCT , LRG_322t1:c.341-22_341-17delinsCAACCT	NP_000542.1:n.341-22_341-17delinsCAACCT
NM_198156.2:c.341-3295_341-3290delinsCAACCT	NP_937799.1:n.341-3295_341-3290delinsCAACCT
XM_011534078.1:c.*18-22_*18-17delinsCAACCT	XP_011532380.1:n.*18-22_*18-17delinsCAACCT
NM_001354723.1:c.*18-3295_*18-3290delinsCAACCT	NP_001341652.1:n.*18-3295_*18-3290delinsCAACCT
NM_000551.4:c.341-22_341-17delinsCAACCT MANE Select	NP_000542.1:n.341-22_341-17delinsCAACCT
NM_001354723.2:c.*18-3295_*18-3290delinsCAACCT	NP_001341652.1:n.*18-3295_*18-3290delinsCAACCT
NM_198156.3:c.341-3295_341-3290delinsCAACCT	NP_937799.1:n.341-3295_341-3290delinsCAACCT