Canonical Allele Identifier: CA540877773

Gene: VHL

Linked Data

• dbSNP Id: rs1230072028
• gnomAD v2: 3-10194546-GC-G
• gnomAD v3: 3-10152862-GC-G
• gnomAD v4: 3-10152862-GC-G
• MyVariant Identifiers: chr3:g.10194547del (hg19) ; chr3:g.10152863del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152864del , CM000665.2:g.10152864del	GRCh38
NC_000003.11:g.10194548del , CM000665.1:g.10194548del	GRCh37
NC_000003.10:g.10169548del	NCBI36
NG_008212.3:g.16230del , LRG_322:g.16230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2899del	ENSP00000512444.1:n.*2899del
ENST00000256474.3:c.*2899del MANE Select	ENSP00000256474.3:n.*2899del
NM_000551.3:c.*2899del , LRG_322t1:c.*2899del	NP_000542.1:n.*2899del
NM_198156.2:c.*2899del	NP_937799.1:n.*2899del
NM_001354723.1:c.*3095del	NP_001341652.1:n.*3095del
NM_000551.4:c.*2899del MANE Select	NP_000542.1:n.*2899del
NM_001354723.2:c.*3095del	NP_001341652.1:n.*3095del
NM_198156.3:c.*2899del	NP_937799.1:n.*2899del