Canonical Allele Identifier: CA2586965647

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142100_10142102delinsTTT , CM000665.2:g.10142100_10142102delinsTTT	GRCh38
NC_000003.11:g.10183784_10183786delinsTTT , CM000665.1:g.10183784_10183786delinsTTT	GRCh37
NC_000003.10:g.10158784_10158786delinsTTT	NCBI36
NG_008212.3:g.5466_5468delinsTTT , LRG_322:g.5466_5468delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.253_255delinsTTT	ENSP00000512434.1:p.Leu85Phe
ENST00000696143.1:c.253_255delinsTTT	ENSP00000512435.1:p.Leu85Phe
ENST00000696153.1:c.253_255delinsTTT	ENSP00000512444.1:p.Leu85Phe
ENST00000256474.3:c.253_255delinsTTT MANE Select	ENSP00000256474.3:p.Leu85Phe
ENST00000256474.2:c.253_255delinsTTT	ENSP00000256474.2:p.Leu85Phe
ENST00000345392.2:c.253_255delinsTTT	ENSP00000344757.2:p.Leu85Phe
NM_000551.3:c.253_255delinsTTT , LRG_322t1:c.253_255delinsTTT	NP_000542.1:p.Leu85Phe
NM_198156.2:c.253_255delinsTTT	NP_937799.1:p.Leu85Phe
XM_011534078.1:c.253_255delinsTTT	XP_011532380.1:p.Leu85Phe
NM_001354723.1:c.253_255delinsTTT	NP_001341652.1:p.Leu85Phe
NM_000551.4:c.253_255delinsTTT MANE Select	NP_000542.1:p.Leu85Phe
NM_001354723.2:c.253_255delinsTTT	NP_001341652.1:p.Leu85Phe
NM_198156.3:c.253_255delinsTTT	NP_937799.1:p.Leu85Phe