Canonical Allele Identifier: CA2740090896

Gene: VHL

Linked Data

• ClinVar Variation Id: 2945349
• ClinVar RCV Id: RCV003801003

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141922_10141966del , CM000665.2:g.10141922_10141966del	GRCh38
NC_000003.11:g.10183606_10183650del , CM000665.1:g.10183606_10183650del	GRCh37
NC_000003.10:g.10158606_10158650del	NCBI36
NG_008212.3:g.5288_5332del , LRG_322:g.5288_5332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.75_119del	ENSP00000512434.1:p.Glu26_Pro40del
ENST00000696143.1:c.75_119del	ENSP00000512435.1:p.Glu26_Pro40del
ENST00000696153.1:c.75_119del	ENSP00000512444.1:p.Glu26_Pro40del
ENST00000256474.3:c.75_119del MANE Select	ENSP00000256474.3:p.Glu26_Pro40del
ENST00000256474.2:c.75_119del	ENSP00000256474.2:p.Glu26_Pro40del
ENST00000345392.2:c.75_119del	ENSP00000344757.2:p.Glu26_Pro40del
NM_000551.3:c.75_119del , LRG_322t1:c.75_119del	NP_000542.1:p.Glu26_Pro40del
NM_198156.2:c.75_119del	NP_937799.1:p.Glu26_Pro40del
XM_011534078.1:c.75_119del	XP_011532380.1:p.Glu26_Pro40del
NM_001354723.1:c.75_119del	NP_001341652.1:p.Glu26_Pro40del
NM_000551.4:c.75_119del MANE Select	NP_000542.1:p.Glu26_Pro40del
NM_001354723.2:c.75_119del	NP_001341652.1:p.Glu26_Pro40del
NM_198156.3:c.75_119del	NP_937799.1:p.Glu26_Pro40del