Canonical Allele Identifier: CA1345062585

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149867_10149868delinsAG , CM000665.2:g.10149867_10149868delinsAG	GRCh38
NC_000003.11:g.10191551_10191552delinsAG , CM000665.1:g.10191551_10191552delinsAG	GRCh37
NC_000003.10:g.10166551_10166552delinsAG	NCBI36
NG_008212.3:g.13233_13234delinsAG , LRG_322:g.13233_13234delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*221_*222delinsAG	ENSP00000512434.1:n.*221_*222delinsAG
ENST00000696143.1:c.680_681delinsAG	ENSP00000512435.1:n.680_681delinsAG
ENST00000696153.1:c.655_656delinsAG	ENSP00000512444.1:p.Arg219=
ENST00000256474.3:c.544_545delinsAG MANE Select	ENSP00000256474.3:p.Arg182=
ENST00000256474.2:c.544_545delinsAG	ENSP00000256474.2:p.Arg182=
ENST00000345392.2:c.421_422delinsAG	ENSP00000344757.2:p.Arg141=
ENST00000477538.1:n.680_681delinsAG
NM_000551.3:c.544_545delinsAG , LRG_322t1:c.544_545delinsAG	NP_000542.1:p.Arg182=
NM_198156.2:c.421_422delinsAG	NP_937799.1:p.Arg141=
NM_001354723.1:c.*98_*99delinsAG	NP_001341652.1:n.*98_*99delinsAG
NM_000551.4:c.544_545delinsAG MANE Select	NP_000542.1:p.Arg182=
NM_001354723.2:c.*98_*99delinsAG	NP_001341652.1:n.*98_*99delinsAG
NM_198156.3:c.421_422delinsAG	NP_937799.1:p.Arg141=