Canonical Allele Identifier: CA1345067455

Gene: VHL

Linked Data

• dbSNP Id: rs1696162690

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142925_10142927del , CM000665.2:g.10142925_10142927del	GRCh38
NC_000003.11:g.10184609_10184611del , CM000665.1:g.10184609_10184611del	GRCh37
NC_000003.10:g.10159609_10159611del	NCBI36
NG_008212.3:g.6291_6293del , LRG_322:g.6291_6293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.503_505del	ENSP00000512434.1:p.Ala168del
ENST00000696143.1:c.503_505del	ENSP00000512435.1:p.Ala168del
ENST00000696153.1:c.340+738_340+740del	ENSP00000512444.1:n.340+738_340+740del
ENST00000256474.3:c.340+738_340+740del MANE Select	ENSP00000256474.3:n.340+738_340+740del
ENST00000256474.2:c.340+738_340+740del	ENSP00000256474.2:n.340+738_340+740del
ENST00000345392.2:c.340+738_340+740del	ENSP00000344757.2:n.340+738_340+740del
ENST00000477538.1:n.380_382del
NM_000551.3:c.340+738_340+740del , LRG_322t1:c.340+738_340+740del	NP_000542.1:n.340+738_340+740del
NM_198156.2:c.340+738_340+740del	NP_937799.1:n.340+738_340+740del
XM_011534078.1:c.503_505del	XP_011532380.1:p.Ala168del
NM_001354723.1:c.503_505del	NP_001341652.1:p.Ala168del
NM_000551.4:c.340+738_340+740del MANE Select	NP_000542.1:n.340+738_340+740del
NM_001354723.2:c.503_505del	NP_001341652.1:p.Ala168del
NM_198156.3:c.340+738_340+740del	NP_937799.1:n.340+738_340+740del