Canonical Allele Identifier: CA896166411

Gene: VHL

Linked Data

• dbSNP Id: rs1346851589
• gnomAD v3: 3-10150053-T-TA
• gnomAD v4: 3-10150053-T-TA
• MyVariant Identifiers: chr3:g.10191737_10191738insA (hg19) ; chr3:g.10150053_10150054insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150054dup , CM000665.2:g.10150054dup	GRCh38
NC_000003.11:g.10191738dup , CM000665.1:g.10191738dup	GRCh37
NC_000003.10:g.10166738dup	NCBI36
NG_008212.3:g.13420dup , LRG_322:g.13420dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*408dup	ENSP00000512434.1:n.*408dup
ENST00000696143.1:c.867dup	ENSP00000512435.1:n.867dup
ENST00000696153.1:c.*89dup	ENSP00000512444.1:n.*89dup
ENST00000256474.3:c.*89dup MANE Select	ENSP00000256474.3:n.*89dup
ENST00000256474.2:c.*89dup	ENSP00000256474.2:n.*89dup
ENST00000345392.2:c.*89dup	ENSP00000344757.2:n.*89dup
ENST00000477538.1:n.867dup
NM_000551.3:c.*89dup , LRG_322t1:c.*89dup	NP_000542.1:n.*89dup
NM_198156.2:c.*89dup	NP_937799.1:n.*89dup
NM_001354723.1:c.*285dup	NP_001341652.1:n.*285dup
NM_000551.4:c.*89dup MANE Select	NP_000542.1:n.*89dup
NM_001354723.2:c.*285dup	NP_001341652.1:n.*285dup
NM_198156.3:c.*89dup	NP_937799.1:n.*89dup