Canonical Allele Identifier: CA1345059293

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10147013_10147014delinsAT , CM000665.2:g.10147013_10147014delinsAT	GRCh38
NC_000003.11:g.10188697_10188698delinsAT , CM000665.1:g.10188697_10188698delinsAT	GRCh37
NC_000003.10:g.10163697_10163698delinsAT	NCBI36
NG_008212.3:g.10379_10380delinsAT , LRG_322:g.10379_10380delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*140+377_*140+378delinsAT	ENSP00000512434.1:n.*140+377_*140+378delinsAT
ENST00000696143.1:c.600-2774_600-2773delinsAT	ENSP00000512435.1:n.600-2774_600-2773delinsAT
ENST00000696153.1:c.463+377_463+378delinsAT	ENSP00000512444.1:n.463+377_463+378delinsAT
ENST00000256474.3:c.463+377_463+378delinsAT MANE Select	ENSP00000256474.3:n.463+377_463+378delinsAT
ENST00000256474.2:c.463+377_463+378delinsAT	ENSP00000256474.2:n.463+377_463+378delinsAT
ENST00000345392.2:c.341-2774_341-2773delinsAT	ENSP00000344757.2:n.341-2774_341-2773delinsAT
ENST00000477538.1:n.599+377_599+378delinsAT
NM_000551.3:c.463+377_463+378delinsAT , LRG_322t1:c.463+377_463+378delinsAT	NP_000542.1:n.463+377_463+378delinsAT
NM_198156.2:c.341-2774_341-2773delinsAT	NP_937799.1:n.341-2774_341-2773delinsAT
NM_001354723.1:c.*18-2774_*18-2773delinsAT	NP_001341652.1:n.*18-2774_*18-2773delinsAT
NM_000551.4:c.463+377_463+378delinsAT MANE Select	NP_000542.1:n.463+377_463+378delinsAT
NM_001354723.2:c.*18-2774_*18-2773delinsAT	NP_001341652.1:n.*18-2774_*18-2773delinsAT
NM_198156.3:c.341-2774_341-2773delinsAT	NP_937799.1:n.341-2774_341-2773delinsAT