Canonical Allele Identifier: CA2755195277

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146726_10146727insCAA , CM000665.2:g.10146726_10146727insCAA	GRCh38
NC_000003.11:g.10188410_10188411insCAA , CM000665.1:g.10188410_10188411insCAA	GRCh37
NC_000003.10:g.10163410_10163411insCAA	NCBI36
NG_008212.3:g.10092_10093insCAA , LRG_322:g.10092_10093insCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*140+90_*140+91insCAA	ENSP00000512434.1:n.*140+90_*140+91insCAA
ENST00000696143.1:c.600-3061_600-3060insCAA	ENSP00000512435.1:n.600-3061_600-3060insCAA
ENST00000696153.1:c.463+90_463+91insCAA	ENSP00000512444.1:n.463+90_463+91insCAA
ENST00000256474.3:c.463+90_463+91insCAA MANE Select	ENSP00000256474.3:n.463+90_463+91insCAA
ENST00000256474.2:c.463+90_463+91insCAA	ENSP00000256474.2:n.463+90_463+91insCAA
ENST00000345392.2:c.341-3061_341-3060insCAA	ENSP00000344757.2:n.341-3061_341-3060insCAA
ENST00000477538.1:n.599+90_599+91insCAA
NM_000551.3:c.463+90_463+91insCAA , LRG_322t1:c.463+90_463+91insCAA	NP_000542.1:n.463+90_463+91insCAA
NM_198156.2:c.341-3061_341-3060insCAA	NP_937799.1:n.341-3061_341-3060insCAA
NM_001354723.1:c.*18-3061_*18-3060insCAA	NP_001341652.1:n.*18-3061_*18-3060insCAA
NM_000551.4:c.463+90_463+91insCAA MANE Select	NP_000542.1:n.463+90_463+91insCAA
NM_001354723.2:c.*18-3061_*18-3060insCAA	NP_001341652.1:n.*18-3061_*18-3060insCAA
NM_198156.3:c.341-3061_341-3060insCAA	NP_937799.1:n.341-3061_341-3060insCAA