Canonical Allele Identifier: CA1345065862

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153293_10153296delinsAAAC , CM000665.2:g.10153293_10153296delinsAAAC	GRCh38
NC_000003.11:g.10194977_10194980delinsAAAC , CM000665.1:g.10194977_10194980delinsAAAC	GRCh37
NC_000003.10:g.10169977_10169980delinsAAAC	NCBI36
NG_008212.3:g.16659_16662delinsAAAC , LRG_322:g.16659_16662delinsAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3328_*3331delinsAAAC	ENSP00000512444.1:n.*3328_*3331delinsAAAC
ENST00000256474.3:c.*3328_*3331delinsAAAC MANE Select	ENSP00000256474.3:n.*3328_*3331delinsAAAC
NM_000551.3:c.*3328_*3331delinsAAAC , LRG_322t1:c.*3328_*3331delinsAAAC	NP_000542.1:n.*3328_*3331delinsAAAC
NM_198156.2:c.*3328_*3331delinsAAAC	NP_937799.1:n.*3328_*3331delinsAAAC
NM_001354723.1:c.*3524_*3527delinsAAAC	NP_001341652.1:n.*3524_*3527delinsAAAC
NM_000551.4:c.*3328_*3331delinsAAAC MANE Select	NP_000542.1:n.*3328_*3331delinsAAAC
NM_001354723.2:c.*3524_*3527delinsAAAC	NP_001341652.1:n.*3524_*3527delinsAAAC
NM_198156.3:c.*3328_*3331delinsAAAC	NP_937799.1:n.*3328_*3331delinsAAAC