Canonical Allele Identifier: CA645525043

Gene: VHL

Linked Data

• COSMIC: COSM30248

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149793_10149794insA , CM000665.2:g.10149793_10149794insA	GRCh38
NC_000003.11:g.10191477_10191478insA , CM000665.1:g.10191477_10191478insA	GRCh37
NC_000003.10:g.10166477_10166478insA	NCBI36
NG_008212.3:g.13159_13160insA , LRG_322:g.13159_13160insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*147_*148insA	ENSP00000512434.1:n.*147_*148insA
ENST00000696143.1:c.606_607insA	ENSP00000512435.1:n.606_607insA
ENST00000696153.1:c.581_582insA	ENSP00000512444.1:p.Leu195SerfsTer16
ENST00000256474.3:c.470_471insA MANE Select	ENSP00000256474.3:p.Leu158SerfsTer16
ENST00000256474.2:c.470_471insA	ENSP00000256474.2:p.Leu158SerfsTer16
ENST00000345392.2:c.347_348insA	ENSP00000344757.2:p.Leu117SerfsTer16
ENST00000477538.1:n.606_607insA
NM_000551.3:c.470_471insA , LRG_322t1:c.470_471insA	NP_000542.1:p.Leu158SerfsTer16
NM_198156.2:c.347_348insA	NP_937799.1:p.Leu117SerfsTer16
NM_001354723.1:c.*24_*25insA	NP_001341652.1:n.*24_*25insA
NM_000551.4:c.470_471insA MANE Select	NP_000542.1:p.Leu158SerfsTer16
NM_001354723.2:c.*24_*25insA	NP_001341652.1:n.*24_*25insA
NM_198156.3:c.347_348insA	NP_937799.1:p.Leu117SerfsTer16