Canonical Allele Identifier: CA2522826382

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152665_10152666insCTA , CM000665.2:g.10152665_10152666insCTA	GRCh38
NC_000003.11:g.10194349_10194350insCTA , CM000665.1:g.10194349_10194350insCTA	GRCh37
NC_000003.10:g.10169349_10169350insCTA	NCBI36
NG_008212.3:g.16031_16032insCTA , LRG_322:g.16031_16032insCTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696153.1:c.*2700_*2701insCTA	ENSP00000512444.1:n.*2700_*2701insCTA
ENST00000256474.3:c.*2700_*2701insCTA MANE Select	ENSP00000256474.3:n.*2700_*2701insCTA
NM_000551.3:c.*2700_*2701insCTA , LRG_322t1:c.*2700_*2701insCTA	NP_000542.1:n.*2700_*2701insCTA
NM_198156.2:c.*2700_*2701insCTA	NP_937799.1:n.*2700_*2701insCTA
NM_001354723.1:c.*2896_*2897insCTA	NP_001341652.1:n.*2896_*2897insCTA
NM_000551.4:c.*2700_*2701insCTA MANE Select	NP_000542.1:n.*2700_*2701insCTA
NM_001354723.2:c.*2896_*2897insCTA	NP_001341652.1:n.*2896_*2897insCTA
NM_198156.3:c.*2700_*2701insCTA	NP_937799.1:n.*2700_*2701insCTA