Canonical Allele Identifier: CA2501268513

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142058_10142059insT , CM000665.2:g.10142058_10142059insT	GRCh38
NC_000003.11:g.10183742_10183743insT , CM000665.1:g.10183742_10183743insT	GRCh37
NC_000003.10:g.10158742_10158743insT	NCBI36
NG_008212.3:g.5424_5425insT , LRG_322:g.5424_5425insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.211_212insT	ENSP00000512434.1:p.Pro71LeufsTer?
ENST00000696143.1:c.211_212insT	ENSP00000512435.1:p.Pro71LeufsTer?
ENST00000696153.1:c.211_212insT	ENSP00000512444.1:p.Pro71LeufsTer?
ENST00000256474.3:c.211_212insT MANE Select	ENSP00000256474.3:p.Pro71LeufsTer?
ENST00000256474.2:c.211_212insT	ENSP00000256474.2:p.Pro71LeufsTer?
ENST00000345392.2:c.211_212insT	ENSP00000344757.2:p.Pro71LeufsTer?
NM_000551.3:c.211_212insT , LRG_322t1:c.211_212insT	NP_000542.1:p.Pro71LeufsTer?
NM_198156.2:c.211_212insT	NP_937799.1:p.Pro71LeufsTer?
XM_011534078.1:c.211_212insT	XP_011532380.1:p.Pro71LeufsTer?
NM_001354723.1:c.211_212insT	NP_001341652.1:p.Pro71LeufsTer?
NM_000551.4:c.211_212insT MANE Select	NP_000542.1:p.Pro71LeufsTer?
NM_001354723.2:c.211_212insT	NP_001341652.1:p.Pro71LeufsTer?
NM_198156.3:c.211_212insT	NP_937799.1:p.Pro71LeufsTer?