Canonical Allele Identifier: CA1345064926

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141881_10141882delinsGA , CM000665.2:g.10141881_10141882delinsGA	GRCh38
NC_000003.11:g.10183565_10183566delinsGA , CM000665.1:g.10183565_10183566delinsGA	GRCh37
NC_000003.10:g.10158565_10158566delinsGA	NCBI36
NG_008212.3:g.5247_5248delinsGA , LRG_322:g.5247_5248delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.34_35delinsGA	ENSP00000512434.1:p.Glu12=
ENST00000696143.1:c.34_35delinsGA	ENSP00000512435.1:p.Glu12=
ENST00000696153.1:c.34_35delinsGA	ENSP00000512444.1:p.Glu12=
ENST00000256474.3:c.34_35delinsGA MANE Select	ENSP00000256474.3:p.Glu12=
ENST00000256474.2:c.34_35delinsGA	ENSP00000256474.2:p.Glu12=
ENST00000345392.2:c.34_35delinsGA	ENSP00000344757.2:p.Glu12=
NM_000551.3:c.34_35delinsGA , LRG_322t1:c.34_35delinsGA	NP_000542.1:p.Glu12=
NM_198156.2:c.34_35delinsGA	NP_937799.1:p.Glu12=
XM_011534078.1:c.34_35delinsGA	XP_011532380.1:p.Glu12=
NM_001354723.1:c.34_35delinsGA	NP_001341652.1:p.Glu12=
NM_000551.4:c.34_35delinsGA MANE Select	NP_000542.1:p.Glu12=
NM_001354723.2:c.34_35delinsGA	NP_001341652.1:p.Glu12=
NM_198156.3:c.34_35delinsGA	NP_937799.1:p.Glu12=