Canonical Allele Identifier: CA896160976

Gene: VHL

Linked Data

• dbSNP Id: rs1334541889
• gnomAD v3: 3-10143709-AGTGCTGGGATTACAGGC-A
• gnomAD v4: 3-10143709-AGTGCTGGGATTACAGGC-A
• MyVariant Identifiers: chr3:g.10185394_10185410del (hg19) ; chr3:g.10143710_10143726del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10143721_10143737del , CM000665.2:g.10143721_10143737del	GRCh38
NC_000003.11:g.10185405_10185421del , CM000665.1:g.10185405_10185421del	GRCh37
NC_000003.10:g.10160405_10160421del	NCBI36
NG_008212.3:g.7087_7103del , LRG_322:g.7087_7103del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*17+700_*17+716del	ENSP00000512434.1:n.*17+700_*17+716del
ENST00000696143.1:c.599+700_599+716del	ENSP00000512435.1:n.599+700_599+716del
ENST00000696153.1:c.340+1534_340+1550del	ENSP00000512444.1:n.340+1534_340+1550del
ENST00000256474.3:c.340+1534_340+1550del MANE Select	ENSP00000256474.3:n.340+1534_340+1550del
ENST00000256474.2:c.340+1534_340+1550del	ENSP00000256474.2:n.340+1534_340+1550del
ENST00000345392.2:c.340+1534_340+1550del	ENSP00000344757.2:n.340+1534_340+1550del
ENST00000477538.1:n.476+700_476+716del
NM_000551.3:c.340+1534_340+1550del , LRG_322t1:c.340+1534_340+1550del	NP_000542.1:n.340+1534_340+1550del
NM_198156.2:c.340+1534_340+1550del	NP_937799.1:n.340+1534_340+1550del
XM_011534078.1:c.*17+700_*17+716del	XP_011532380.1:n.*17+700_*17+716del
NM_001354723.1:c.*17+700_*17+716del	NP_001341652.1:n.*17+700_*17+716del
NM_000551.4:c.340+1534_340+1550del MANE Select	NP_000542.1:n.340+1534_340+1550del
NM_001354723.2:c.*17+700_*17+716del	NP_001341652.1:n.*17+700_*17+716del
NM_198156.3:c.340+1534_340+1550del	NP_937799.1:n.340+1534_340+1550del