Canonical Allele Identifier: CA2499307077

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142119_10142120delinsAA , CM000665.2:g.10142119_10142120delinsAA	GRCh38
NC_000003.11:g.10183803_10183804delinsAA , CM000665.1:g.10183803_10183804delinsAA	GRCh37
NC_000003.10:g.10158803_10158804delinsAA	NCBI36
NG_008212.3:g.5485_5486delinsAA , LRG_322:g.5485_5486delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.272_273delinsAA	ENSP00000512434.1:p.Phe91Ter
ENST00000696143.1:c.272_273delinsAA	ENSP00000512435.1:p.Phe91Ter
ENST00000696153.1:c.272_273delinsAA	ENSP00000512444.1:p.Phe91Ter
ENST00000256474.3:c.272_273delinsAA MANE Select	ENSP00000256474.3:p.Phe91Ter
ENST00000256474.2:c.272_273delinsAA	ENSP00000256474.2:p.Phe91Ter
ENST00000345392.2:c.272_273delinsAA	ENSP00000344757.2:p.Phe91Ter
NM_000551.3:c.272_273delinsAA , LRG_322t1:c.272_273delinsAA	NP_000542.1:p.Phe91Ter
NM_198156.2:c.272_273delinsAA	NP_937799.1:p.Phe91Ter
XM_011534078.1:c.272_273delinsAA	XP_011532380.1:p.Phe91Ter
NM_001354723.1:c.272_273delinsAA	NP_001341652.1:p.Phe91Ter
NM_000551.4:c.272_273delinsAA MANE Select	NP_000542.1:p.Phe91Ter
NM_001354723.2:c.272_273delinsAA	NP_001341652.1:p.Phe91Ter
NM_198156.3:c.272_273delinsAA	NP_937799.1:p.Phe91Ter