Canonical Allele Identifier: CA1345067318

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142878_10142884delinsCGGAAGA , CM000665.2:g.10142878_10142884delinsCGGAAGA	GRCh38
NC_000003.11:g.10184562_10184568delinsCGGAAGA , CM000665.1:g.10184562_10184568delinsCGGAAGA	GRCh37
NC_000003.10:g.10159562_10159568delinsCGGAAGA	NCBI36
NG_008212.3:g.6244_6250delinsCGGAAGA , LRG_322:g.6244_6250delinsCGGAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.456_462delinsCGGAAGA	ENSP00000512434.1:p.Ala152=
ENST00000696143.1:c.456_462delinsCGGAAGA	ENSP00000512435.1:p.Ala152=
ENST00000696153.1:c.340+691_340+697delinsCGGAAGA	ENSP00000512444.1:n.340+691_340+697delinsCGGAAGA
ENST00000256474.3:c.340+691_340+697delinsCGGAAGA MANE Select	ENSP00000256474.3:n.340+691_340+697delinsCGGAAGA
ENST00000256474.2:c.340+691_340+697delinsCGGAAGA	ENSP00000256474.2:n.340+691_340+697delinsCGGAAGA
ENST00000345392.2:c.340+691_340+697delinsCGGAAGA	ENSP00000344757.2:n.340+691_340+697delinsCGGAAGA
ENST00000477538.1:n.333_339delinsCGGAAGA
NM_000551.3:c.340+691_340+697delinsCGGAAGA , LRG_322t1:c.340+691_340+697delinsCGGAAGA	NP_000542.1:n.340+691_340+697delinsCGGAAGA
NM_198156.2:c.340+691_340+697delinsCGGAAGA	NP_937799.1:n.340+691_340+697delinsCGGAAGA
XM_011534078.1:c.456_462delinsCGGAAGA	XP_011532380.1:p.Ala152=
NM_001354723.1:c.456_462delinsCGGAAGA	NP_001341652.1:p.Ala152=
NM_000551.4:c.340+691_340+697delinsCGGAAGA MANE Select	NP_000542.1:n.340+691_340+697delinsCGGAAGA
NM_001354723.2:c.456_462delinsCGGAAGA	NP_001341652.1:p.Ala152=
NM_198156.3:c.340+691_340+697delinsCGGAAGA	NP_937799.1:n.340+691_340+697delinsCGGAAGA