Canonical Allele Identifier: CA896161472

Gene: VHL

Linked Data

• dbSNP Id: rs34512214
• gnomAD v3: 3-10144496-CT-C
• gnomAD v4: 3-10144496-CT-C
• MyVariant Identifiers: chr3:g.10186181del (hg19) ; chr3:g.10144497del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144514del , CM000665.2:g.10144514del	GRCh38
NC_000003.11:g.10186198del , CM000665.1:g.10186198del	GRCh37
NC_000003.10:g.10161198del	NCBI36
NG_008212.3:g.7880del , LRG_322:g.7880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1493del	ENSP00000512434.1:n.*17+1493del
ENST00000696143.1:c.599+1493del	ENSP00000512435.1:n.599+1493del
ENST00000696153.1:c.341-2000del	ENSP00000512444.1:n.341-2000del
ENST00000256474.3:c.341-2000del MANE Select	ENSP00000256474.3:n.341-2000del
ENST00000256474.2:c.341-2000del	ENSP00000256474.2:n.341-2000del
ENST00000345392.2:c.340+2327del	ENSP00000344757.2:n.340+2327del
ENST00000477538.1:n.476+1493del
NM_000551.3:c.341-2000del , LRG_322t1:c.341-2000del	NP_000542.1:n.341-2000del
NM_198156.2:c.340+2327del	NP_937799.1:n.340+2327del
XM_011534078.1:c.*17+1493del	XP_011532380.1:n.*17+1493del
NM_001354723.1:c.*17+1493del	NP_001341652.1:n.*17+1493del
NM_000551.4:c.341-2000del MANE Select	NP_000542.1:n.341-2000del
NM_001354723.2:c.*17+1493del	NP_001341652.1:n.*17+1493del
NM_198156.3:c.340+2327del	NP_937799.1:n.340+2327del