Canonical Allele Identifier: CA1345058461

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146530_10146531delinsCA , CM000665.2:g.10146530_10146531delinsCA	GRCh38
NC_000003.11:g.10188214_10188215delinsCA , CM000665.1:g.10188214_10188215delinsCA	GRCh37
NC_000003.10:g.10163214_10163215delinsCA	NCBI36
NG_008212.3:g.9896_9897delinsCA , LRG_322:g.9896_9897delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*34_*35delinsCA	ENSP00000512434.1:n.*34_*35delinsCA
ENST00000696143.1:c.600-3257_600-3256delinsCA	ENSP00000512435.1:n.600-3257_600-3256deli...
ENST00000696153.1:c.357_358delinsCA	ENSP00000512444.1:p.Phe119=
ENST00000256474.3:c.357_358delinsCA MANE Select	ENSP00000256474.3:p.Phe119=
ENST00000256474.2:c.357_358delinsCA	ENSP00000256474.2:p.Phe119=
ENST00000345392.2:c.341-3257_341-3256delinsCA	ENSP00000344757.2:n.341-3257_341-3256deli...
ENST00000477538.1:n.493_494delinsCA
NM_000551.3:c.357_358delinsCA , LRG_322t1:c.357_358delinsCA	NP_000542.1:p.Phe119=
NM_198156.2:c.341-3257_341-3256delinsCA	NP_937799.1:n.341-3257_341-3256delinsCA
XM_011534078.1:c.*34_*35delinsCA	XP_011532380.1:n.*34_*35delinsCA
NM_001354723.1:c.*18-3257_*18-3256delinsCA	NP_001341652.1:n.*18-3257_*18-3256delinsC...
NM_000551.4:c.357_358delinsCA MANE Select	NP_000542.1:p.Phe119=
NM_001354723.2:c.*18-3257_*18-3256delinsCA	NP_001341652.1:n.*18-3257_*18-3256delinsC...
NM_198156.3:c.341-3257_341-3256delinsCA	NP_937799.1:n.341-3257_341-3256delinsCA