Canonical Allele Identifier: CA913189503

Gene: VHL

Linked Data

• ClinVar Variation Id: 625228
• ClinVar RCV Id: RCV000767243
• dbSNP Id: rs1559425951

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142086_10142108del , CM000665.2:g.10142086_10142108del	GRCh38
NC_000003.11:g.10183770_10183792del , CM000665.1:g.10183770_10183792del	GRCh37
NC_000003.10:g.10158770_10158792del	NCBI36
NG_008212.3:g.5452_5474del , LRG_322:g.5452_5474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.239_261del	ENSP00000512434.1:p.Ser80MetfsTer?
ENST00000696143.1:c.239_261del	ENSP00000512435.1:p.Ser80MetfsTer?
ENST00000696153.1:c.239_261del	ENSP00000512444.1:p.Ser80MetfsTer?
ENST00000256474.3:c.239_261del MANE Select	ENSP00000256474.3:p.Ser80MetfsTer?
ENST00000256474.2:c.239_261del	ENSP00000256474.2:p.Ser80MetfsTer?
ENST00000345392.2:c.239_261del	ENSP00000344757.2:p.Ser80MetfsTer?
NM_000551.3:c.239_261del , LRG_322t1:c.239_261del	NP_000542.1:p.Ser80MetfsTer?
NM_198156.2:c.239_261del	NP_937799.1:p.Ser80MetfsTer?
XM_011534078.1:c.239_261del	XP_011532380.1:p.Ser80MetfsTer?
NM_001354723.1:c.239_261del	NP_001341652.1:p.Ser80MetfsTer?
NM_000551.4:c.239_261del MANE Select	NP_000542.1:p.Ser80MetfsTer?
NM_001354723.2:c.239_261del	NP_001341652.1:p.Ser80MetfsTer?
NM_198156.3:c.239_261del	NP_937799.1:p.Ser80MetfsTer?