Canonical Allele Identifier: CA70055107

Gene: VHL

Linked Data

• dbSNP Id: rs886057755
• gnomAD v3: 3-10153282-AAAAAAAC-A
• gnomAD v4: 3-10153282-AAAAAAAC-A
• MyVariant Identifiers: chr3:g.10194967_10194973del (hg19) ; chr3:g.10153283_10153289del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153295_10153301del , CM000665.2:g.10153295_10153301del	GRCh38
NC_000003.11:g.10194979_10194985del , CM000665.1:g.10194979_10194985del	GRCh37
NC_000003.10:g.10169979_10169985del	NCBI36
NG_008212.3:g.16661_16667del , LRG_322:g.16661_16667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3330_*3336del	ENSP00000512444.1:n.*3330_*3336del
ENST00000256474.3:c.*3330_*3336del MANE Select	ENSP00000256474.3:n.*3330_*3336del
NM_000551.3:c.*3330_*3336del , LRG_322t1:c.*3330_*3336del	NP_000542.1:n.*3330_*3336del
NM_198156.2:c.*3330_*3336del	NP_937799.1:n.*3330_*3336del
NM_001354723.1:c.*3526_*3532del	NP_001341652.1:n.*3526_*3532del
NM_000551.4:c.*3330_*3336del MANE Select	NP_000542.1:n.*3330_*3336del
NM_001354723.2:c.*3526_*3532del	NP_001341652.1:n.*3526_*3532del
NM_198156.3:c.*3330_*3336del	NP_937799.1:n.*3330_*3336del