Canonical Allele Identifier: CA541213518

Gene: VHL

Linked Data

• dbSNP Id: rs1559425560
• gnomAD v2: 3-10183569-T-TAGGCGCGGAGGAGGC
• gnomAD v4: 3-10141885-T-TAGGCGCGGAGGAGGC
• MyVariant Identifiers: chr3:g.10183569_10183570insAGGCGCGGAGGAGGC (hg19) ; chr3:g.10141885_10141886insAGGCGCGGAGGAGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141891_10141905dup , CM000665.2:g.10141891_10141905dup	GRCh38
NC_000003.11:g.10183575_10183589dup , CM000665.1:g.10183575_10183589dup	GRCh37
NC_000003.10:g.10158575_10158589dup	NCBI36
NG_008212.3:g.5257_5271dup , LRG_322:g.5257_5271dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.44_58dup	ENSP00000512434.1:p.Gly19_Val20insAlaGluG...
ENST00000696143.1:c.44_58dup	ENSP00000512435.1:p.Gly19_Val20insAlaGluG...
ENST00000696153.1:c.44_58dup	ENSP00000512444.1:p.Gly19_Val20insAlaGluG...
ENST00000256474.3:c.44_58dup MANE Select	ENSP00000256474.3:p.Gly19_Val20insAlaGluG...
ENST00000256474.2:c.44_58dup	ENSP00000256474.2:p.Gly19_Val20insAlaGluG...
ENST00000345392.2:c.44_58dup	ENSP00000344757.2:p.Gly19_Val20insAlaGluG...
NM_000551.3:c.44_58dup , LRG_322t1:c.44_58dup	NP_000542.1:p.Gly19_Val20insAlaGluGluAlaG...
NM_198156.2:c.44_58dup	NP_937799.1:p.Gly19_Val20insAlaGluGluAlaG...
XM_011534078.1:c.44_58dup	XP_011532380.1:p.Gly19_Val20insAlaGluGluA...
NM_001354723.1:c.44_58dup	NP_001341652.1:p.Gly19_Val20insAlaGluGluA...
NM_000551.4:c.44_58dup MANE Select	NP_000542.1:p.Gly19_Val20insAlaGluGluAlaG...
NM_001354723.2:c.44_58dup	NP_001341652.1:p.Gly19_Val20insAlaGluGluA...
NM_198156.3:c.44_58dup	NP_937799.1:p.Gly19_Val20insAlaGluGluAlaG...