Canonical Allele Identifier: CA2573320343

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142074_10142075delinsAA , CM000665.2:g.10142074_10142075delinsAA	GRCh38
NC_000003.11:g.10183758_10183759delinsAA , CM000665.1:g.10183758_10183759delinsAA	GRCh37
NC_000003.10:g.10158758_10158759delinsAA	NCBI36
NG_008212.3:g.5440_5441delinsAA , LRG_322:g.5440_5441delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.227_228delinsAA	ENSP00000512434.1:p.Phe76Ter
ENST00000696143.1:c.227_228delinsAA	ENSP00000512435.1:p.Phe76Ter
ENST00000696153.1:c.227_228delinsAA	ENSP00000512444.1:p.Phe76Ter
ENST00000256474.3:c.227_228delinsAA MANE Select	ENSP00000256474.3:p.Phe76Ter
ENST00000256474.2:c.227_228delinsAA	ENSP00000256474.2:p.Phe76Ter
ENST00000345392.2:c.227_228delinsAA	ENSP00000344757.2:p.Phe76Ter
NM_000551.3:c.227_228delinsAA , LRG_322t1:c.227_228delinsAA	NP_000542.1:p.Phe76Ter
NM_198156.2:c.227_228delinsAA	NP_937799.1:p.Phe76Ter
XM_011534078.1:c.227_228delinsAA	XP_011532380.1:p.Phe76Ter
NM_001354723.1:c.227_228delinsAA	NP_001341652.1:p.Phe76Ter
NM_000551.4:c.227_228delinsAA MANE Select	NP_000542.1:p.Phe76Ter
NM_001354723.2:c.227_228delinsAA	NP_001341652.1:p.Phe76Ter
NM_198156.3:c.227_228delinsAA	NP_937799.1:p.Phe76Ter