Canonical Allele Identifier: CA913190158
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 625246
ClinVar RCV Id: RCV000767270
dbSNP Id: rs1559428180

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146592_10146600delinsACAATTATTTGTGCCATCTCTCAA , CM000665.2:g.10146592_10146600delinsACAATTATTTGTGCCATCTCTCAA GRCh38
NC_000003.11:g.10188276_10188284delinsACAATTATTTGTGCCATCTCTCAA , CM000665.1:g.10188276_10188284delinsACAATTATTTGTGCCATCTCTCAA GRCh37
NC_000003.10:g.10163276_10163284delinsACAATTATTTGTGCCATCTCTCAA NCBI36
NG_008212.3:g.9958_9966delinsACAATTATTTGTGCCATCTCTCAA , LRG_322:g.9958_9966delinsACAATTATTTGTGCCATCTCTCAA

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*96_*104delinsACAATTATTTGTGCCATCTCTCAA ENSP00000512434.1:n.*96_*104delinsACAATTA...
ENST00000696143.1:c.600-3195_600-3187delinsACAATTATTTGTGCCATCTCTCAA ENSP00000512435.1:n.600-3195_600-3187deli...
ENST00000696153.1:c.419_427delinsACAATTATTTGTGCCATCTCTCAA ENSP00000512444.1:p.Leu140_Asp143delinsHi...
ENST00000256474.3:c.419_427delinsACAATTATTTGTGCCATCTCTCAA MANE Select ENSP00000256474.3:p.Leu140_Asp143delinsHi...
ENST00000256474.2:c.419_427delinsACAATTATTTGTGCCATCTCTCAA ENSP00000256474.2:p.Leu140_Asp143delinsHi...
ENST00000345392.2:c.341-3195_341-3187delinsACAATTATTTGTGCCATCTCTCAA ENSP00000344757.2:n.341-3195_341-3187deli...
ENST00000477538.1:n.555_563delinsACAATTATTTGTGCCATCTCTCAA
NM_000551.3:c.419_427delinsACAATTATTTGTGCCATCTCTCAA , LRG_322t1:c.419_427delinsACAATTATTTGTGCCATCTCTCAA NP_000542.1:p.Leu140_Asp143delinsHisAsnTy...
NM_198156.2:c.341-3195_341-3187delinsACAATTATTTGTGCCATCTCTCAA NP_937799.1:n.341-3195_341-3187delinsACAA...
XM_011534078.1:c.*96_*104delinsACAATTATTTGTGCCATCTCTCAA XP_011532380.1:n.*96_*104delinsACAATTATTT...
NM_001354723.1:c.*18-3195_*18-3187delinsACAATTATTTGTGCCATCTCTCAA NP_001341652.1:n.*18-3195_*18-3187delinsA...
NM_000551.4:c.419_427delinsACAATTATTTGTGCCATCTCTCAA MANE Select NP_000542.1:p.Leu140_Asp143delinsHisAsnTy...
NM_001354723.2:c.*18-3195_*18-3187delinsACAATTATTTGTGCCATCTCTCAA NP_001341652.1:n.*18-3195_*18-3187delinsA...
NM_198156.3:c.341-3195_341-3187delinsACAATTATTTGTGCCATCTCTCAA NP_937799.1:n.341-3195_341-3187delinsACAA...