Canonical Allele Identifier: CA915942649
Community Standard Title: NM_002109.6(HARS1):c.910_912dup (p.Leu305dup)
Gene: HARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140677029_140677031dup , CM000667.2:g.140677029_140677031dup GRCh38
NC_000005.9:g.140056614_140056616dup , CM000667.1:g.140056614_140056616dup GRCh37
NC_000005.8:g.140036798_140036800dup NCBI36
NG_032158.1:g.19357_19359dup

Transcript Alleles

HGVS Amino-acid Change
NM_002109.6:c.910_912dup MANE Select NP_002100.2:p.Leu304_Leu305insLeu
ENST00000504156.7:c.910_912dup MANE Select ENSP00000425634.1:p.Leu304_Leu305insLeu
NM_001258040.2:c.790_792dup NP_001244969.1:p.Leu264_Leu265insLeu
NM_001258040.3:c.790_792dup NP_001244969.1:p.Leu264_Leu265insLeu
NM_001258041.2:c.850_852dup NP_001244970.1:p.Leu284_Leu285insLeu
NM_001258041.3:c.850_852dup NP_001244970.1:p.Leu284_Leu285insLeu
NM_001258042.2:c.730_732dup NP_001244971.1:p.Leu244_Leu245insLeu
NM_001258042.3:c.730_732dup NP_001244971.1:p.Leu244_Leu245insLeu
NM_001289092.1:c.688_690dup NP_001276021.1:p.Leu230_Leu231insLeu
NM_001289092.2:c.688_690dup NP_001276021.1:p.Leu230_Leu231insLeu
NM_001289093.1:c.568_570dup NP_001276022.1:p.Leu190_Leu191insLeu
NM_001289093.2:c.568_570dup NP_001276022.1:p.Leu190_Leu191insLeu
NM_001289094.1:c.823_825dup NP_001276023.1:p.Leu275_Leu276insLeu
NM_001289094.2:c.823_825dup NP_001276023.1:p.Leu275_Leu276insLeu
NM_002109.5:c.910_912dup NP_002100.2:p.Leu304_Leu305insLeu
ENST00000307633.7:c.730_732dup ENSP00000304668.3:p.Leu244_Leu245insLeu
ENST00000415192.6:c.688_690dup ENSP00000411085.2:p.Leu230_Leu231insLeu
ENST00000431330.6:c.568_570dup ENSP00000393244.2:p.Leu190_Leu191insLeu
ENST00000431330.7:c.568_570dup ENSP00000393244.2:p.Leu190_Leu191insLeu
ENST00000438307.6:c.790_792dup ENSP00000411511.2:p.Leu264_Leu265insLeu
ENST00000457527.6:c.850_852dup ENSP00000387893.2:p.Leu284_Leu285insLeu
ENST00000504156.5:c.910_912dup ENSP00000425634.1:p.Leu304_Leu305insLeu
ENST00000504366.5:c.703_705dup ENSP00000430063.1:p.Leu235_Leu236insLeu
ENST00000506579.5:n.1967_1969dup
ENST00000506579.6:n.2135_2137dup
ENST00000507746.5:c.580_582dup ENSP00000425889.1:p.Leu194_Leu195insLeu
ENST00000507746.7:c.910_912dup ENSP00000425889.2:p.Leu304_Leu305insLeu
ENST00000509087.2:c.181-1897_181-1895dup ENSP00000502781.1:n.181-1897_181-1895dup
ENST00000512396.6:c.*849_*851dup ENSP00000421576.1:n.*849_*851dup
ENST00000643686.1:c.*965_*967dup ENSP00000493611.1:n.*965_*967dup
ENST00000645491.1:c.*843_*845dup ENSP00000494297.1:n.*843_*845dup
ENST00000646229.1:c.961_963dup
ENST00000674523.1:c.*200_*202dup ENSP00000501816.1:n.*200_*202dup
ENST00000675094.1:n.2007_2009dup
ENST00000675204.1:c.910_912dup ENSP00000501643.1:p.Leu304_Leu305insLeu
ENST00000675355.1:n.695_697dup
ENST00000675366.1:c.910_912dup ENSP00000501747.1:p.Leu304_Leu305insLeu
ENST00000675698.1:c.703_705dup ENSP00000501581.1:p.Leu235_Leu236insLeu
ENST00000675763.1:n.2817_2819dup
ENST00000675827.1:c.*3_*5dup ENSP00000501900.1:n.*3_*5dup
ENST00000675851.1:c.580_582dup ENSP00000502624.1:p.Leu194_Leu195insLeu
ENST00000675898.1:n.2728_2730dup
ENST00000675967.1:n.2524_2526dup
ENST00000676327.1:c.802_804dup ENSP00000502594.1:p.Leu268_Leu269insLeu