Canonical Allele Identifier: CA1345065858

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153292_10153296delinsAAAAC , CM000665.2:g.10153292_10153296delinsAAAAC	GRCh38
NC_000003.11:g.10194976_10194980delinsAAAAC , CM000665.1:g.10194976_10194980delinsAAAAC	GRCh37
NC_000003.10:g.10169976_10169980delinsAAAAC	NCBI36
NG_008212.3:g.16658_16662delinsAAAAC , LRG_322:g.16658_16662delinsAAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3327_*3331delinsAAAAC	ENSP00000512444.1:n.*3327_*3331delinsAAAAC
ENST00000256474.3:c.*3327_*3331delinsAAAAC MANE Select	ENSP00000256474.3:n.*3327_*3331delinsAAAAC
NM_000551.3:c.*3327_*3331delinsAAAAC , LRG_322t1:c.*3327_*3331delinsAAAAC	NP_000542.1:n.*3327_*3331delinsAAAAC
NM_198156.2:c.*3327_*3331delinsAAAAC	NP_937799.1:n.*3327_*3331delinsAAAAC
NM_001354723.1:c.*3523_*3527delinsAAAAC	NP_001341652.1:n.*3523_*3527delinsAAAAC
NM_000551.4:c.*3327_*3331delinsAAAAC MANE Select	NP_000542.1:n.*3327_*3331delinsAAAAC
NM_001354723.2:c.*3523_*3527delinsAAAAC	NP_001341652.1:n.*3523_*3527delinsAAAAC
NM_198156.3:c.*3327_*3331delinsAAAAC	NP_937799.1:n.*3327_*3331delinsAAAAC