Canonical Allele Identifier: CA896163566

Gene: VHL

Linked Data

• dbSNP Id: rs1171872370
• gnomAD v3: 3-10146892-G-GT
• gnomAD v4: 3-10146892-G-GT
• MyVariant Identifiers: chr3:g.10188576_10188577insT (hg19) ; chr3:g.10146892_10146893insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146896dup , CM000665.2:g.10146896dup	GRCh38
NC_000003.11:g.10188580dup , CM000665.1:g.10188580dup	GRCh37
NC_000003.10:g.10163580dup	NCBI36
NG_008212.3:g.10262dup , LRG_322:g.10262dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*140+260dup	ENSP00000512434.1:n.*140+260dup
ENST00000696143.1:c.600-2891dup	ENSP00000512435.1:n.600-2891dup
ENST00000696153.1:c.463+260dup	ENSP00000512444.1:n.463+260dup
ENST00000256474.3:c.463+260dup MANE Select	ENSP00000256474.3:n.463+260dup
ENST00000256474.2:c.463+260dup	ENSP00000256474.2:n.463+260dup
ENST00000345392.2:c.341-2891dup	ENSP00000344757.2:n.341-2891dup
ENST00000477538.1:n.599+260dup
NM_000551.3:c.463+260dup , LRG_322t1:c.463+260dup	NP_000542.1:n.463+260dup
NM_198156.2:c.341-2891dup	NP_937799.1:n.341-2891dup
NM_001354723.1:c.*18-2891dup	NP_001341652.1:n.*18-2891dup
NM_000551.4:c.463+260dup MANE Select	NP_000542.1:n.463+260dup
NM_001354723.2:c.*18-2891dup	NP_001341652.1:n.*18-2891dup
NM_198156.3:c.341-2891dup	NP_937799.1:n.341-2891dup