Canonical Allele Identifier: CA1345066000

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142102_10142103delinsGC , CM000665.2:g.10142102_10142103delinsGC	GRCh38
NC_000003.11:g.10183786_10183787delinsGC , CM000665.1:g.10183786_10183787delinsGC	GRCh37
NC_000003.10:g.10158786_10158787delinsGC	NCBI36
NG_008212.3:g.5468_5469delinsGC , LRG_322:g.5468_5469delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.255_256delinsGC	ENSP00000512434.1:p.Leu85=
ENST00000696143.1:c.255_256delinsGC	ENSP00000512435.1:p.Leu85=
ENST00000696153.1:c.255_256delinsGC	ENSP00000512444.1:p.Leu85=
ENST00000256474.3:c.255_256delinsGC MANE Select	ENSP00000256474.3:p.Leu85=
ENST00000256474.2:c.255_256delinsGC	ENSP00000256474.2:p.Leu85=
ENST00000345392.2:c.255_256delinsGC	ENSP00000344757.2:p.Leu85=
NM_000551.3:c.255_256delinsGC , LRG_322t1:c.255_256delinsGC	NP_000542.1:p.Leu85=
NM_198156.2:c.255_256delinsGC	NP_937799.1:p.Leu85=
XM_011534078.1:c.255_256delinsGC	XP_011532380.1:p.Leu85=
NM_001354723.1:c.255_256delinsGC	NP_001341652.1:p.Leu85=
NM_000551.4:c.255_256delinsGC MANE Select	NP_000542.1:p.Leu85=
NM_001354723.2:c.255_256delinsGC	NP_001341652.1:p.Leu85=
NM_198156.3:c.255_256delinsGC	NP_937799.1:p.Leu85=