Canonical Allele Identifier: CA658683075
Gene: VHL HGNC NCBI

Linked Data

CIViC: CA658683075
PCER: P-CER:CA658683075/193300
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142110_10142112delinsTT , CM000665.2:g.10142110_10142112delinsTT GRCh38
NC_000003.11:g.10183794_10183796delinsTT , CM000665.1:g.10183794_10183796delinsTT GRCh37
NC_000003.10:g.10158794_10158796delinsTT NCBI36
NG_008212.3:g.5476_5478delinsTT , LRG_322:g.5476_5478delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.263_265delinsTT ENSP00000512434.1:p.Trp88PhefsTer29
ENST00000696143.1:c.263_265delinsTT ENSP00000512435.1:p.Trp88PhefsTer29
ENST00000696153.1:c.263_265delinsTT ENSP00000512444.1:p.Trp88PhefsTer?
ENST00000256474.3:c.263_265delinsTT MANE Select ENSP00000256474.3:p.Trp88PhefsTer?
ENST00000256474.2:c.263_265delinsTT ENSP00000256474.2:p.Trp88PhefsTer?
ENST00000345392.2:c.263_265delinsTT ENSP00000344757.2:p.Trp88PhefsTer30
NM_000551.3:c.263_265delinsTT , LRG_322t1:c.263_265delinsTT NP_000542.1:p.Trp88PhefsTer?
NM_198156.2:c.263_265delinsTT NP_937799.1:p.Trp88PhefsTer30
XM_011534078.1:c.263_265delinsTT XP_011532380.1:p.Trp88PhefsTer29
NM_001354723.1:c.263_265delinsTT NP_001341652.1:p.Trp88PhefsTer29
NM_000551.4:c.263_265delinsTT MANE Select NP_000542.1:p.Trp88PhefsTer?
NM_001354723.2:c.263_265delinsTT NP_001341652.1:p.Trp88PhefsTer29
NM_198156.3:c.263_265delinsTT NP_937799.1:p.Trp88PhefsTer30
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