Canonical Allele Identifier: CA1044997407

Gene: VHL

Linked Data

• gnomAD v3: 3-10146143-ATAGGTGCCC-A
• gnomAD v4: 3-10146143-ATAGGTGCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146145_10146153del , CM000665.2:g.10146145_10146153del	GRCh38
NC_000003.11:g.10187829_10187837del , CM000665.1:g.10187829_10187837del	GRCh37
NC_000003.10:g.10162829_10162837del	NCBI36
NG_008212.3:g.9511_9519del , LRG_322:g.9511_9519del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-369_*18-361del	ENSP00000512434.1:n.*18-369_*18-361del
ENST00000696143.1:c.599+3124_599+3132del	ENSP00000512435.1:n.599+3124_599+3132del
ENST00000696153.1:c.341-369_341-361del	ENSP00000512444.1:n.341-369_341-361del
ENST00000256474.3:c.341-369_341-361del MANE Select	ENSP00000256474.3:n.341-369_341-361del
ENST00000256474.2:c.341-369_341-361del	ENSP00000256474.2:n.341-369_341-361del
ENST00000345392.2:c.341-3642_341-3634del	ENSP00000344757.2:n.341-3642_341-3634del
ENST00000477538.1:n.477-369_477-361del
NM_000551.3:c.341-369_341-361del , LRG_322t1:c.341-369_341-361del	NP_000542.1:n.341-369_341-361del
NM_198156.2:c.341-3642_341-3634del	NP_937799.1:n.341-3642_341-3634del
XM_011534078.1:c.*18-369_*18-361del	XP_011532380.1:n.*18-369_*18-361del
NM_001354723.1:c.*17+3124_*17+3132del	NP_001341652.1:n.*17+3124_*17+3132del
NM_000551.4:c.341-369_341-361del MANE Select	NP_000542.1:n.341-369_341-361del
NM_001354723.2:c.*17+3124_*17+3132del	NP_001341652.1:n.*17+3124_*17+3132del
NM_198156.3:c.341-3642_341-3634del	NP_937799.1:n.341-3642_341-3634del