Canonical Allele Identifier: CA3266346870
Community Standard Title: NM_000551.4(VHL):c.188_273dup (p.Asp92CysfsTer4)
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142035_10142120dup , CM000665.2:g.10142035_10142120dup GRCh38
NC_000003.11:g.10183719_10183804dup , CM000665.1:g.10183719_10183804dup GRCh37
NC_000003.10:g.10158719_10158804dup NCBI36
NG_008212.3:g.5401_5486dup , LRG_322:g.5401_5486dup

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.188_273dup MANE Select NP_000542.1:p.Asp92CysfsTer4
ENST00000256474.3:c.188_273dup MANE Select ENSP00000256474.3:p.Asp92CysfsTer4
NM_000551.3:c.188_273dup , LRG_322t1:c.188_273dup NP_000542.1:p.Asp92CysfsTer4
NM_001354723.1:c.188_273dup NP_001341652.1:p.Asp92CysfsTer4
NM_001354723.2:c.188_273dup NP_001341652.1:p.Asp92CysfsTer4
NM_198156.2:c.188_273dup NP_937799.1:p.Asp92CysfsTer4
NM_198156.3:c.188_273dup NP_937799.1:p.Asp92CysfsTer4
ENST00000256474.2:c.188_273dup ENSP00000256474.2:p.Asp92CysfsTer4
ENST00000345392.2:c.188_273dup ENSP00000344757.2:p.Asp92CysfsTer4
ENST00000696142.1:c.188_273dup ENSP00000512434.1:p.Asp92CysfsTer4
ENST00000696143.1:c.188_273dup ENSP00000512435.1:p.Asp92CysfsTer4
ENST00000696153.1:c.188_273dup ENSP00000512444.1:p.Asp92CysfsTer4
XM_011534078.1:c.188_273dup XP_011532380.1:p.Asp92CysfsTer4
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