Canonical Allele Identifier: CA645524944

Gene: VHL

Linked Data

• COSMIC: COSM34011

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146580_10146581delinsG , CM000665.2:g.10146580_10146581delinsG	GRCh38
NC_000003.11:g.10188264_10188265delinsG , CM000665.1:g.10188264_10188265delinsG	GRCh37
NC_000003.10:g.10163264_10163265delinsG	NCBI36
NG_008212.3:g.9946_9947delinsG , LRG_322:g.9946_9947delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*84_*85delinsG	ENSP00000512434.1:n.*84_*85delinsG
ENST00000696143.1:c.600-3207_600-3206delinsG	ENSP00000512435.1:n.600-3207_600-3206delinsG
ENST00000696153.1:c.407_408delinsG	ENSP00000512444.1:p.Phe136TrpfsTer?
ENST00000256474.3:c.407_408delinsG MANE Select	ENSP00000256474.3:p.Phe136TrpfsTer23
ENST00000256474.2:c.407_408delinsG	ENSP00000256474.2:p.Phe136TrpfsTer23
ENST00000345392.2:c.341-3207_341-3206delinsG	ENSP00000344757.2:n.341-3207_341-3206delinsG
ENST00000477538.1:n.543_544delinsG
NM_000551.3:c.407_408delinsG , LRG_322t1:c.407_408delinsG	NP_000542.1:p.Phe136TrpfsTer23
NM_198156.2:c.341-3207_341-3206delinsG	NP_937799.1:n.341-3207_341-3206delinsG
XM_011534078.1:c.*84_*85delinsG	XP_011532380.1:n.*84_*85delinsG
NM_001354723.1:c.*18-3207_*18-3206delinsG	NP_001341652.1:n.*18-3207_*18-3206delinsG
NM_000551.4:c.407_408delinsG MANE Select	NP_000542.1:p.Phe136TrpfsTer23
NM_001354723.2:c.*18-3207_*18-3206delinsG	NP_001341652.1:n.*18-3207_*18-3206delinsG
NM_198156.3:c.341-3207_341-3206delinsG	NP_937799.1:n.341-3207_341-3206delinsG