Canonical Allele Identifier: CA432420639
Community Standard Title: NM_000551.4(VHL):c.329del (p.His110ProfsTer?)
Gene: VHL HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142176del , CM000665.2:g.10142176del GRCh38
NC_000003.11:g.10183860del , CM000665.1:g.10183860del GRCh37
NC_000003.10:g.10158860del NCBI36
NG_008212.3:g.5542del , LRG_322:g.5542del

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.329del MANE Select NP_000542.1:p.His110ProfsTer?
ENST00000256474.3:c.329del MANE Select ENSP00000256474.3:p.His110ProfsTer?
NM_000551.3:c.329del , LRG_322t1:c.329del NP_000542.1:p.His110ProfsTer?
NM_001354723.1:c.329del NP_001341652.1:p.His110ProfsTer7
NM_001354723.2:c.329del NP_001341652.1:p.His110ProfsTer7
NM_198156.2:c.329del NP_937799.1:p.His110ProfsTer8
NM_198156.3:c.329del NP_937799.1:p.His110ProfsTer8
ENST00000256474.2:c.329del ENSP00000256474.2:p.His110ProfsTer?
ENST00000345392.2:c.329del ENSP00000344757.2:p.His110ProfsTer8
ENST00000696142.1:c.329del ENSP00000512434.1:p.His110ProfsTer7
ENST00000696143.1:c.329del ENSP00000512435.1:p.His110ProfsTer7
ENST00000696153.1:c.329del ENSP00000512444.1:p.His110ProfsTer?
XM_011534078.1:c.329del XP_011532380.1:p.His110ProfsTer7
Search 100 bp 5'
Search 100 bp 3'