Canonical Allele Identifier: CA891843325

Gene: VHL

Linked Data

• ClinVar Variation Id: 575315
• ClinVar RCV Id: RCV000697499
• dbSNP Id: rs1559429840
• MyVariant Identifiers: chr3:g.10191575_10191577dup (hg19) ; chr3:g.10149891_10149893dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149891_10149893dup , CM000665.2:g.10149891_10149893dup	GRCh38
NC_000003.11:g.10191575_10191577dup , CM000665.1:g.10191575_10191577dup	GRCh37
NC_000003.10:g.10166575_10166577dup	NCBI36
NG_008212.3:g.13257_13259dup , LRG_322:g.13257_13259dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*245_*247dup	ENSP00000512434.1:n.*245_*247dup
ENST00000696143.1:c.704_706dup	ENSP00000512435.1:n.704_706dup
ENST00000696153.1:c.679_681dup	ENSP00000512444.1:p.Asp227_His228insAsp
ENST00000256474.3:c.568_570dup MANE Select	ENSP00000256474.3:p.Asp190_His191insAsp
ENST00000256474.2:c.568_570dup	ENSP00000256474.2:p.Asp190_His191insAsp
ENST00000345392.2:c.445_447dup	ENSP00000344757.2:p.Asp149_His150insAsp
ENST00000477538.1:n.704_706dup
NM_000551.3:c.568_570dup , LRG_322t1:c.568_570dup	NP_000542.1:p.Asp190_His191insAsp
NM_198156.2:c.445_447dup	NP_937799.1:p.Asp149_His150insAsp
NM_001354723.1:c.*122_*124dup	NP_001341652.1:n.*122_*124dup
NM_000551.4:c.568_570dup MANE Select	NP_000542.1:p.Asp190_His191insAsp
NM_001354723.2:c.*122_*124dup	NP_001341652.1:n.*122_*124dup
NM_198156.3:c.445_447dup	NP_937799.1:p.Asp149_His150insAsp