Canonical Allele Identifier: CA2664403084

Gene: VHL

Linked Data

• gnomAD v4: 3-10146578-A-AGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146578_10146579insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT , CM000665.2:g.10146578_10146579insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT	GRCh38
NC_000003.11:g.10188262_10188263insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT , CM000665.1:g.10188262_10188263insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT	GRCh37
NC_000003.10:g.10163262_10163263insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT	NCBI36
NG_008212.3:g.9944_9945insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT , LRG_322:g.9944_9945insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*82_*83insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT	ENSP00000512434.1:n.*82_*83insGGTGCCCTGAC...
ENST00000696143.1:c.600-3209_600-3208insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT	ENSP00000512435.1:n.600-3209_600-3208insG...
ENST00000696153.1:c.405_406insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT	ENSP00000512444.1:p.Phe136GlyfsTer20
ENST00000256474.3:c.405_406insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT MANE Select	ENSP00000256474.3:p.Phe136GlyfsTer20
ENST00000256474.2:c.405_406insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT	ENSP00000256474.2:p.Phe136GlyfsTer20
ENST00000345392.2:c.341-3209_341-3208insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT	ENSP00000344757.2:n.341-3209_341-3208insG...
ENST00000477538.1:n.541_542insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT
NM_000551.3:c.405_406insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT , LRG_322t1:c.405_406insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT	NP_000542.1:p.Phe136GlyfsTer20
NM_198156.2:c.341-3209_341-3208insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT	NP_937799.1:n.341-3209_341-3208insGGTGCCC...
XM_011534078.1:c.*82_*83insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT	XP_011532380.1:n.*82_*83insGGTGCCCTGACTCA...
NM_001354723.1:c.*18-3209_*18-3208insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT	NP_001341652.1:n.*18-3209_*18-3208insGGTG...
NM_000551.4:c.405_406insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT MANE Select	NP_000542.1:p.Phe136GlyfsTer20
NM_001354723.2:c.*18-3209_*18-3208insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT	NP_001341652.1:n.*18-3209_*18-3208insGGTG...
NM_198156.3:c.341-3209_341-3208insGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTT	NP_937799.1:n.341-3209_341-3208insGGTGCCC...