Canonical Allele Identifier: CA645524945

Gene: VHL

Linked Data

• COSMIC: COSM17902

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146580_10146581insG , CM000665.2:g.10146580_10146581insG	GRCh38
NC_000003.11:g.10188264_10188265insG , CM000665.1:g.10188264_10188265insG	GRCh37
NC_000003.10:g.10163264_10163265insG	NCBI36
NG_008212.3:g.9946_9947insG , LRG_322:g.9946_9947insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*84_*85insG	ENSP00000512434.1:n.*84_*85insG
ENST00000696143.1:c.600-3207_600-3206insG	ENSP00000512435.1:n.600-3207_600-3206insG...
ENST00000696153.1:c.407_408insG	ENSP00000512444.1:p.Phe136LeufsTer8
ENST00000256474.3:c.407_408insG MANE Select	ENSP00000256474.3:p.Phe136LeufsTer8
ENST00000256474.2:c.407_408insG	ENSP00000256474.2:p.Phe136LeufsTer8
ENST00000345392.2:c.341-3207_341-3206insG	ENSP00000344757.2:n.341-3207_341-3206insG...
ENST00000477538.1:n.543_544insG
NM_000551.3:c.407_408insG , LRG_322t1:c.407_408insG	NP_000542.1:p.Phe136LeufsTer8
NM_198156.2:c.341-3207_341-3206insG	NP_937799.1:n.341-3207_341-3206insG
XM_011534078.1:c.*84_*85insG	XP_011532380.1:n.*84_*85insG
NM_001354723.1:c.*18-3207_*18-3206insG	NP_001341652.1:n.*18-3207_*18-3206insG
NM_000551.4:c.407_408insG MANE Select	NP_000542.1:p.Phe136LeufsTer8
NM_001354723.2:c.*18-3207_*18-3206insG	NP_001341652.1:n.*18-3207_*18-3206insG
NM_198156.3:c.341-3207_341-3206insG	NP_937799.1:n.341-3207_341-3206insG