Canonical Allele Identifier: CA1345069691

Gene: VHL

Linked Data

• dbSNP Id: rs1696258720
• gnomAD v4: 3-10146456-GGGCCACCGTGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146457_10146469del , CM000665.2:g.10146457_10146469del	GRCh38
NC_000003.11:g.10188141_10188153del , CM000665.1:g.10188141_10188153del	GRCh37
NC_000003.10:g.10163141_10163153del	NCBI36
NG_008212.3:g.9823_9835del , LRG_322:g.9823_9835del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-57_*18-45del	ENSP00000512434.1:n.*18-57_*18-45del
ENST00000696143.1:c.600-3330_600-3318del	ENSP00000512435.1:n.600-3330_600-3318del
ENST00000696153.1:c.341-57_341-45del	ENSP00000512444.1:n.341-57_341-45del
ENST00000256474.3:c.341-57_341-45del MANE Select	ENSP00000256474.3:n.341-57_341-45del
ENST00000256474.2:c.341-57_341-45del	ENSP00000256474.2:n.341-57_341-45del
ENST00000345392.2:c.341-3330_341-3318del	ENSP00000344757.2:n.341-3330_341-3318del
ENST00000477538.1:n.477-57_477-45del
NM_000551.3:c.341-57_341-45del , LRG_322t1:c.341-57_341-45del	NP_000542.1:n.341-57_341-45del
NM_198156.2:c.341-3330_341-3318del	NP_937799.1:n.341-3330_341-3318del
XM_011534078.1:c.*18-57_*18-45del	XP_011532380.1:n.*18-57_*18-45del
NM_001354723.1:c.*18-3330_*18-3318del	NP_001341652.1:n.*18-3330_*18-3318del
NM_000551.4:c.341-57_341-45del MANE Select	NP_000542.1:n.341-57_341-45del
NM_001354723.2:c.*18-3330_*18-3318del	NP_001341652.1:n.*18-3330_*18-3318del
NM_198156.3:c.341-3330_341-3318del	NP_937799.1:n.341-3330_341-3318del