Canonical Allele Identifier: CA1345069671

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146430_10146431delinsTC , CM000665.2:g.10146430_10146431delinsTC	GRCh38
NC_000003.11:g.10188114_10188115delinsTC , CM000665.1:g.10188114_10188115delinsTC	GRCh37
NC_000003.10:g.10163114_10163115delinsTC	NCBI36
NG_008212.3:g.9796_9797delinsTC , LRG_322:g.9796_9797delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-84_*18-83delinsTC	ENSP00000512434.1:n.*18-84_*18-83delinsTC
ENST00000696143.1:c.600-3357_600-3356delinsTC	ENSP00000512435.1:n.600-3357_600-3356delinsTC
ENST00000696153.1:c.341-84_341-83delinsTC	ENSP00000512444.1:n.341-84_341-83delinsTC
ENST00000256474.3:c.341-84_341-83delinsTC MANE Select	ENSP00000256474.3:n.341-84_341-83delinsTC
ENST00000256474.2:c.341-84_341-83delinsTC	ENSP00000256474.2:n.341-84_341-83delinsTC
ENST00000345392.2:c.341-3357_341-3356delinsTC	ENSP00000344757.2:n.341-3357_341-3356delinsTC
ENST00000477538.1:n.477-84_477-83delinsTC
NM_000551.3:c.341-84_341-83delinsTC , LRG_322t1:c.341-84_341-83delinsTC	NP_000542.1:n.341-84_341-83delinsTC
NM_198156.2:c.341-3357_341-3356delinsTC	NP_937799.1:n.341-3357_341-3356delinsTC
XM_011534078.1:c.*18-84_*18-83delinsTC	XP_011532380.1:n.*18-84_*18-83delinsTC
NM_001354723.1:c.*18-3357_*18-3356delinsTC	NP_001341652.1:n.*18-3357_*18-3356delinsTC
NM_000551.4:c.341-84_341-83delinsTC MANE Select	NP_000542.1:n.341-84_341-83delinsTC
NM_001354723.2:c.*18-3357_*18-3356delinsTC	NP_001341652.1:n.*18-3357_*18-3356delinsTC
NM_198156.3:c.341-3357_341-3356delinsTC	NP_937799.1:n.341-3357_341-3356delinsTC