Canonical Allele Identifier: CA896166459

Gene: VHL

Linked Data

• dbSNP Id: rs1207846445
• gnomAD v3: 3-10150183-A-AG
• gnomAD v4: 3-10150183-A-AG
• MyVariant Identifiers: chr3:g.10191867_10191868insG (hg19) ; chr3:g.10150183_10150184insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150184dup , CM000665.2:g.10150184dup	GRCh38
NC_000003.11:g.10191868dup , CM000665.1:g.10191868dup	GRCh37
NC_000003.10:g.10166868dup	NCBI36
NG_008212.3:g.13550dup , LRG_322:g.13550dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*538dup	ENSP00000512434.1:n.*538dup
ENST00000696143.1:c.997dup	ENSP00000512435.1:n.997dup
ENST00000696153.1:c.*219dup	ENSP00000512444.1:n.*219dup
ENST00000256474.3:c.*219dup MANE Select	ENSP00000256474.3:n.*219dup
ENST00000256474.2:c.*219dup	ENSP00000256474.2:n.*219dup
ENST00000345392.2:c.*219dup	ENSP00000344757.2:n.*219dup
NM_000551.3:c.*219dup , LRG_322t1:c.*219dup	NP_000542.1:n.*219dup
NM_198156.2:c.*219dup	NP_937799.1:n.*219dup
NM_001354723.1:c.*415dup	NP_001341652.1:n.*415dup
NM_000551.4:c.*219dup MANE Select	NP_000542.1:n.*219dup
NM_001354723.2:c.*415dup	NP_001341652.1:n.*415dup
NM_198156.3:c.*219dup	NP_937799.1:n.*219dup