Canonical Allele Identifier: CA2497030211

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146528_10146529delinsA , CM000665.2:g.10146528_10146529delinsA	GRCh38
NC_000003.11:g.10188212_10188213delinsA , CM000665.1:g.10188212_10188213delinsA	GRCh37
NC_000003.10:g.10163212_10163213delinsA	NCBI36
NG_008212.3:g.9894_9895delinsA , LRG_322:g.9894_9895delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*32_*33delinsA	ENSP00000512434.1:n.*32_*33delinsA
ENST00000696143.1:c.600-3259_600-3258delinsA	ENSP00000512435.1:n.600-3259_600-3258delinsA
ENST00000696153.1:c.355_356delinsA	ENSP00000512444.1:p.Phe119ThrfsTer?
ENST00000256474.3:c.355_356delinsA MANE Select	ENSP00000256474.3:p.Phe119ThrfsTer?
ENST00000256474.2:c.355_356delinsA	ENSP00000256474.2:p.Phe119ThrfsTer?
ENST00000345392.2:c.341-3259_341-3258delinsA	ENSP00000344757.2:n.341-3259_341-3258delinsA
ENST00000477538.1:n.491_492delinsA
NM_000551.3:c.355_356delinsA , LRG_322t1:c.355_356delinsA	NP_000542.1:p.Phe119ThrfsTer?
NM_198156.2:c.341-3259_341-3258delinsA	NP_937799.1:n.341-3259_341-3258delinsA
XM_011534078.1:c.*32_*33delinsA	XP_011532380.1:n.*32_*33delinsA
NM_001354723.1:c.*18-3259_*18-3258delinsA	NP_001341652.1:n.*18-3259_*18-3258delinsA
NM_000551.4:c.355_356delinsA MANE Select	NP_000542.1:p.Phe119ThrfsTer?
NM_001354723.2:c.*18-3259_*18-3258delinsA	NP_001341652.1:n.*18-3259_*18-3258delinsA
NM_198156.3:c.341-3259_341-3258delinsA	NP_937799.1:n.341-3259_341-3258delinsA