Canonical Allele Identifier: CA2740090900

Gene: VHL

Linked Data

• ClinVar Variation Id: 2951826
• ClinVar RCV Id: RCV003812513

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149800_10149801insTCA , CM000665.2:g.10149800_10149801insTCA	GRCh38
NC_000003.11:g.10191484_10191485insTCA , CM000665.1:g.10191484_10191485insTCA	GRCh37
NC_000003.10:g.10166484_10166485insTCA	NCBI36
NG_008212.3:g.13166_13167insTCA , LRG_322:g.13166_13167insTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*154_*155insTCA	ENSP00000512434.1:n.*154_*155insTCA
ENST00000696143.1:c.613_614insTCA	ENSP00000512435.1:n.613_614insTCA
ENST00000696153.1:c.588_589insTCA	ENSP00000512444.1:p.Lys196_Glu197insSer
ENST00000256474.3:c.477_478insTCA MANE Select	ENSP00000256474.3:p.Lys159_Glu160insSer
ENST00000256474.2:c.477_478insTCA	ENSP00000256474.2:p.Lys159_Glu160insSer
ENST00000345392.2:c.354_355insTCA	ENSP00000344757.2:p.Lys118_Glu119insSer
ENST00000477538.1:n.613_614insTCA
NM_000551.3:c.477_478insTCA , LRG_322t1:c.477_478insTCA	NP_000542.1:p.Lys159_Glu160insSer
NM_198156.2:c.354_355insTCA	NP_937799.1:p.Lys118_Glu119insSer
NM_001354723.1:c.*31_*32insTCA	NP_001341652.1:n.*31_*32insTCA
NM_000551.4:c.477_478insTCA MANE Select	NP_000542.1:p.Lys159_Glu160insSer
NM_001354723.2:c.*31_*32insTCA	NP_001341652.1:n.*31_*32insTCA
NM_198156.3:c.354_355insTCA	NP_937799.1:p.Lys118_Glu119insSer