Canonical Allele Identifier: CA2499306722

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146455_10146500del , CM000665.2:g.10146455_10146500del	GRCh38
NC_000003.11:g.10188139_10188184del , CM000665.1:g.10188139_10188184del	GRCh37
NC_000003.10:g.10163139_10163184del	NCBI36
NG_008212.3:g.9821_9866del , LRG_322:g.9821_9866del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-59_*18-14del	ENSP00000512434.1:n.*18-59_*18-14del
ENST00000696143.1:c.600-3332_600-3287del	ENSP00000512435.1:n.600-3332_600-3287del
ENST00000696153.1:c.341-59_341-14del	ENSP00000512444.1:n.341-59_341-14del
ENST00000256474.3:c.341-59_341-14del MANE Select	ENSP00000256474.3:n.341-59_341-14del
ENST00000256474.2:c.341-59_341-14del	ENSP00000256474.2:n.341-59_341-14del
ENST00000345392.2:c.341-3332_341-3287del	ENSP00000344757.2:n.341-3332_341-3287del
ENST00000477538.1:n.477-59_477-14del
NM_000551.3:c.341-59_341-14del , LRG_322t1:c.341-59_341-14del	NP_000542.1:n.341-59_341-14del
NM_198156.2:c.341-3332_341-3287del	NP_937799.1:n.341-3332_341-3287del
XM_011534078.1:c.*18-59_*18-14del	XP_011532380.1:n.*18-59_*18-14del
NM_001354723.1:c.*18-3332_*18-3287del	NP_001341652.1:n.*18-3332_*18-3287del
NM_000551.4:c.341-59_341-14del MANE Select	NP_000542.1:n.341-59_341-14del
NM_001354723.2:c.*18-3332_*18-3287del	NP_001341652.1:n.*18-3332_*18-3287del
NM_198156.3:c.341-3332_341-3287del	NP_937799.1:n.341-3332_341-3287del