Canonical Allele Identifier: CA3266346827
Community Standard Title: NC_000003.12:g.10141773_10142187dup
Gene: VHL HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141773_10142187dup , CM000665.2:g.10141773_10142187dup GRCh38
NC_000003.11:g.10183457_10183871dup , CM000665.1:g.10183457_10183871dup GRCh37
NC_000003.10:g.10158457_10158871dup NCBI36
NG_008212.3:g.5139_5553dup , LRG_322:g.5139_5553dup

Transcript Alleles

HGVS Amino-acid Change
NM_000551.3:c.-75_340dup , LRG_322t1:c.-75_340dup NP_000542.1:p.Gly114AlafsTer51
NM_001354723.1:c.-75_340dup NP_001341652.1:p.Val114AlafsTer51
NM_198156.2:c.-75_340dup NP_937799.1:p.Val114AlafsTer51
ENST00000256474.2:c.-75_340dup ENSP00000256474.2:p.Gly114AlafsTer51
XM_011534078.1:c.-75_340dup XP_011532380.1:p.Val114AlafsTer51
Search 100 bp 5'
Search 100 bp 3'