Canonical Allele Identifier: CA1345065357

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152581_10152582delinsCT , CM000665.2:g.10152581_10152582delinsCT	GRCh38
NC_000003.11:g.10194265_10194266delinsCT , CM000665.1:g.10194265_10194266delinsCT	GRCh37
NC_000003.10:g.10169265_10169266delinsCT	NCBI36
NG_008212.3:g.15947_15948delinsCT , LRG_322:g.15947_15948delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696153.1:c.*2616_*2617delinsCT	ENSP00000512444.1:n.*2616_*2617delinsCT
ENST00000256474.3:c.*2616_*2617delinsCT MANE Select	ENSP00000256474.3:n.*2616_*2617delinsCT
NM_000551.3:c.*2616_*2617delinsCT , LRG_322t1:c.*2616_*2617delinsCT	NP_000542.1:n.*2616_*2617delinsCT
NM_198156.2:c.*2616_*2617delinsCT	NP_937799.1:n.*2616_*2617delinsCT
NM_001354723.1:c.*2812_*2813delinsCT	NP_001341652.1:n.*2812_*2813delinsCT
NM_000551.4:c.*2616_*2617delinsCT MANE Select	NP_000542.1:n.*2616_*2617delinsCT
NM_001354723.2:c.*2812_*2813delinsCT	NP_001341652.1:n.*2812_*2813delinsCT
NM_198156.3:c.*2616_*2617delinsCT	NP_937799.1:n.*2616_*2617delinsCT