Canonical Allele Identifier: CA3266346872
Community Standard Title: NM_000551.4(VHL):c.191_269dup (p.Asn90LysfsTer?)
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142038_10142116dup , CM000665.2:g.10142038_10142116dup GRCh38
NC_000003.11:g.10183722_10183800dup , CM000665.1:g.10183722_10183800dup GRCh37
NC_000003.10:g.10158722_10158800dup NCBI36
NG_008212.3:g.5404_5482dup , LRG_322:g.5404_5482dup

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.191_269dup MANE Select NP_000542.1:p.Asn90LysfsTer?
ENST00000256474.3:c.191_269dup MANE Select ENSP00000256474.3:p.Asn90LysfsTer?
NM_000551.3:c.191_269dup , LRG_322t1:c.191_269dup NP_000542.1:p.Asn90LysfsTer?
NM_001354723.1:c.191_269dup NP_001341652.1:p.Asn90LysfsTer?
NM_001354723.2:c.191_269dup NP_001341652.1:p.Asn90LysfsTer?
NM_198156.2:c.191_269dup NP_937799.1:p.Asn90LysfsTer?
NM_198156.3:c.191_269dup NP_937799.1:p.Asn90LysfsTer?
ENST00000256474.2:c.191_269dup ENSP00000256474.2:p.Asn90LysfsTer?
ENST00000345392.2:c.191_269dup ENSP00000344757.2:p.Asn90LysfsTer?
ENST00000696142.1:c.191_269dup ENSP00000512434.1:p.Asn90LysfsTer?
ENST00000696143.1:c.191_269dup ENSP00000512435.1:p.Asn90LysfsTer?
ENST00000696153.1:c.191_269dup ENSP00000512444.1:p.Asn90LysfsTer?
XM_011534078.1:c.191_269dup XP_011532380.1:p.Asn90LysfsTer?
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