Canonical Allele Identifier: CA3266346853
Community Standard Title: NM_000551.4(VHL):c.123_235dup (p.Arg79GlnfsTer26)
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141970_10142082dup , CM000665.2:g.10141970_10142082dup GRCh38
NC_000003.11:g.10183654_10183766dup , CM000665.1:g.10183654_10183766dup GRCh37
NC_000003.10:g.10158654_10158766dup NCBI36
NG_008212.3:g.5336_5448dup , LRG_322:g.5336_5448dup

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.123_235dup MANE Select NP_000542.1:p.Arg79GlnfsTer26
ENST00000256474.3:c.123_235dup MANE Select ENSP00000256474.3:p.Arg79GlnfsTer26
NM_000551.3:c.123_235dup , LRG_322t1:c.123_235dup NP_000542.1:p.Arg79GlnfsTer26
NM_001354723.1:c.123_235dup NP_001341652.1:p.Arg79GlnfsTer26
NM_001354723.2:c.123_235dup NP_001341652.1:p.Arg79GlnfsTer26
NM_198156.2:c.123_235dup NP_937799.1:p.Arg79GlnfsTer26
NM_198156.3:c.123_235dup NP_937799.1:p.Arg79GlnfsTer26
ENST00000256474.2:c.123_235dup ENSP00000256474.2:p.Arg79GlnfsTer26
ENST00000345392.2:c.123_235dup ENSP00000344757.2:p.Arg79GlnfsTer26
ENST00000696142.1:c.123_235dup ENSP00000512434.1:p.Arg79GlnfsTer26
ENST00000696143.1:c.123_235dup ENSP00000512435.1:p.Arg79GlnfsTer26
ENST00000696153.1:c.123_235dup ENSP00000512444.1:p.Arg79GlnfsTer26
XM_011534078.1:c.123_235dup XP_011532380.1:p.Arg79GlnfsTer26
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