Canonical Allele Identifier: CA1345065839

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153282_10153289delinsAAAAAAAC , CM000665.2:g.10153282_10153289delinsAAAAAAAC	GRCh38
NC_000003.11:g.10194966_10194973delinsAAAAAAAC , CM000665.1:g.10194966_10194973delinsAAAAAAAC	GRCh37
NC_000003.10:g.10169966_10169973delinsAAAAAAAC	NCBI36
NG_008212.3:g.16648_16655delinsAAAAAAAC , LRG_322:g.16648_16655delinsAAAAAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3317_*3324delinsAAAAAAAC	ENSP00000512444.1:n.*3317_*3324delinsAAAAAAAC
ENST00000256474.3:c.*3317_*3324delinsAAAAAAAC MANE Select	ENSP00000256474.3:n.*3317_*3324delinsAAAAAAAC
NM_000551.3:c.*3317_*3324delinsAAAAAAAC , LRG_322t1:c.*3317_*3324delinsAAAAAAAC	NP_000542.1:n.*3317_*3324delinsAAAAAAAC
NM_198156.2:c.*3317_*3324delinsAAAAAAAC	NP_937799.1:n.*3317_*3324delinsAAAAAAAC
NM_001354723.1:c.*3513_*3520delinsAAAAAAAC	NP_001341652.1:n.*3513_*3520delinsAAAAAAAC
NM_000551.4:c.*3317_*3324delinsAAAAAAAC MANE Select	NP_000542.1:n.*3317_*3324delinsAAAAAAAC
NM_001354723.2:c.*3513_*3520delinsAAAAAAAC	NP_001341652.1:n.*3513_*3520delinsAAAAAAAC
NM_198156.3:c.*3317_*3324delinsAAAAAAAC	NP_937799.1:n.*3317_*3324delinsAAAAAAAC