Canonical Allele Identifier: CA2497029032

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152481_10152487delinsCTTTTTT , CM000665.2:g.10152481_10152487delinsCTTTTTT	GRCh38
NC_000003.11:g.10194165_10194171delinsCTTTTTT , CM000665.1:g.10194165_10194171delinsCTTTTTT	GRCh37
NC_000003.10:g.10169165_10169171delinsCTTTTTT	NCBI36
NG_008212.3:g.15847_15853delinsCTTTTTT , LRG_322:g.15847_15853delinsCTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2516_*2522delinsCTTTTTT	ENSP00000512444.1:n.*2516_*2522delinsCTTTTTT
ENST00000256474.3:c.*2516_*2522delinsCTTTTTT MANE Select	ENSP00000256474.3:n.*2516_*2522delinsCTTTTTT
NM_000551.3:c.*2516_*2522delinsCTTTTTT , LRG_322t1:c.*2516_*2522delinsCTTTTTT	NP_000542.1:n.*2516_*2522delinsCTTTTTT
NM_198156.2:c.*2516_*2522delinsCTTTTTT	NP_937799.1:n.*2516_*2522delinsCTTTTTT
NM_001354723.1:c.*2712_*2718delinsCTTTTTT	NP_001341652.1:n.*2712_*2718delinsCTTTTTT
NM_000551.4:c.*2516_*2522delinsCTTTTTT MANE Select	NP_000542.1:n.*2516_*2522delinsCTTTTTT
NM_001354723.2:c.*2712_*2718delinsCTTTTTT	NP_001341652.1:n.*2712_*2718delinsCTTTTTT
NM_198156.3:c.*2516_*2522delinsCTTTTTT	NP_937799.1:n.*2516_*2522delinsCTTTTTT