Canonical Allele Identifier: CA3104826042
Community Standard Title: NM_000551.4(VHL):c.156_157delinsAA (p.Glu53Lys)
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142003_10142004delinsAA , CM000665.2:g.10142003_10142004delinsAA GRCh38
NC_000003.11:g.10183687_10183688delinsAA , CM000665.1:g.10183687_10183688delinsAA GRCh37
NC_000003.10:g.10158687_10158688delinsAA NCBI36
NG_008212.3:g.5369_5370delinsAA , LRG_322:g.5369_5370delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.156_157delinsAA MANE Select NP_000542.1:p.Glu53Lys
ENST00000256474.3:c.156_157delinsAA MANE Select ENSP00000256474.3:p.Glu53Lys
NM_000551.3:c.156_157delinsAA , LRG_322t1:c.156_157delinsAA NP_000542.1:p.Glu53Lys
NM_001354723.1:c.156_157delinsAA NP_001341652.1:p.Glu53Lys
NM_001354723.2:c.156_157delinsAA NP_001341652.1:p.Glu53Lys
NM_198156.2:c.156_157delinsAA NP_937799.1:p.Glu53Lys
NM_198156.3:c.156_157delinsAA NP_937799.1:p.Glu53Lys
ENST00000256474.2:c.156_157delinsAA ENSP00000256474.2:p.Glu53Lys
ENST00000345392.2:c.156_157delinsAA ENSP00000344757.2:p.Glu53Lys
ENST00000696142.1:c.156_157delinsAA ENSP00000512434.1:p.Glu53Lys
ENST00000696143.1:c.156_157delinsAA ENSP00000512435.1:p.Glu53Lys
ENST00000696153.1:c.156_157delinsAA ENSP00000512444.1:p.Glu53Lys
XM_011534078.1:c.156_157delinsAA XP_011532380.1:p.Glu53Lys
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