Canonical Allele Identifier: CA916081421

Gene: VHL

Linked Data

• ClinVar Variation Id: 856153
• ClinVar RCV Id: RCV001061553
• dbSNP Id: rs1696266605

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146621_10146622del , CM000665.2:g.10146621_10146622del	GRCh38
NC_000003.11:g.10188305_10188306del , CM000665.1:g.10188305_10188306del	GRCh37
NC_000003.10:g.10163305_10163306del	NCBI36
NG_008212.3:g.9987_9988del , LRG_322:g.9987_9988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*125_*126del	ENSP00000512434.1:n.*125_*126del
ENST00000696143.1:c.600-3166_600-3165del	ENSP00000512435.1:n.600-3166_600-3165del
ENST00000696153.1:c.448_449del	ENSP00000512444.1:p.Asn150TyrfsTer?
ENST00000256474.3:c.448_449del MANE Select	ENSP00000256474.3:p.Asn150TyrfsTer23
ENST00000256474.2:c.448_449del	ENSP00000256474.2:p.Asn150TyrfsTer23
ENST00000345392.2:c.341-3166_341-3165del	ENSP00000344757.2:n.341-3166_341-3165del
ENST00000477538.1:n.584_585del
NM_000551.3:c.448_449del , LRG_322t1:c.448_449del	NP_000542.1:p.Asn150TyrfsTer23
NM_198156.2:c.341-3166_341-3165del	NP_937799.1:n.341-3166_341-3165del
NM_001354723.1:c.*18-3166_*18-3165del	NP_001341652.1:n.*18-3166_*18-3165del
NM_000551.4:c.448_449del MANE Select	NP_000542.1:p.Asn150TyrfsTer23
NM_001354723.2:c.*18-3166_*18-3165del	NP_001341652.1:n.*18-3166_*18-3165del
NM_198156.3:c.341-3166_341-3165del	NP_937799.1:n.341-3166_341-3165del