Canonical Allele Identifier: CA10603204
Community Standard Title: NM_001351132.2(PEX5):c.1803_1805delinsTC (p.Glu601AspfsTer14)
Gene: PEX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7210106_7210108delinsTC , CM000674.2:g.7210106_7210108delinsTC GRCh38
NC_000012.11:g.7362702_7362704delinsTC , CM000674.1:g.7362702_7362704delinsTC GRCh37
NC_000012.10:g.7253969_7253971delinsTC NCBI36
NG_008448.1:g.25944_25946delinsTC

Transcript Alleles

HGVS Amino-acid Change
NM_001351132.2:c.1803_1805delinsTC MANE Select NP_001338061.1:p.Glu601AspfsTer14
ENST00000675855.1:c.1803_1805delinsTC MANE Select ENSP00000502374.1:p.Glu601AspfsTer14
NM_000319.4:c.1779_1781delinsTC NP_000310.2:p.Glu593AspfsTer14
NM_000319.5:c.1779_1781delinsTC NP_000310.2:p.Glu593AspfsTer14
NM_001131023.1:c.1848_1850delinsTC NP_001124495.1:p.Glu616AspfsTer14
NM_001131023.2:c.1848_1850delinsTC NP_001124495.1:p.Glu616AspfsTer14
NM_001131024.1:c.1692_1694delinsTC NP_001124496.1:p.Glu564AspfsTer14
NM_001131024.2:c.1692_1694delinsTC NP_001124496.1:p.Glu564AspfsTer14
NM_001131025.1:c.1803_1805delinsTC NP_001124497.1:p.Glu601AspfsTer14
NM_001131025.2:c.1803_1805delinsTC NP_001124497.1:p.Glu601AspfsTer14
NM_001131026.1:c.1803_1805delinsTC NP_001124498.1:p.Glu601AspfsTer14
NM_001131026.2:c.1803_1805delinsTC NP_001124498.1:p.Glu601AspfsTer14
NM_001300789.1:c.1866_1868delinsTC NP_001287718.1:p.Glu622AspfsTer14
NM_001300789.3:c.1803_1805delinsTC NP_001287718.2:p.Glu601AspfsTer14
NM_001351124.1:c.1692_1694delinsTC NP_001338053.1:p.Glu564AspfsTer14
NM_001351124.3:c.1692_1694delinsTC NP_001338053.1:p.Glu564AspfsTer14
NM_001351126.1:c.1692_1694delinsTC NP_001338055.1:p.Glu564AspfsTer14
NM_001351126.2:c.1692_1694delinsTC NP_001338055.1:p.Glu564AspfsTer14
NM_001351127.1:c.1692_1694delinsTC NP_001338056.1:p.Glu564AspfsTer14
NM_001351127.2:c.1692_1694delinsTC NP_001338056.1:p.Glu564AspfsTer14
NM_001351128.1:c.1692_1694delinsTC NP_001338057.1:p.Glu564AspfsTer14
NM_001351128.2:c.1692_1694delinsTC NP_001338057.1:p.Glu564AspfsTer14
NM_001351130.1:c.1692_1694delinsTC NP_001338059.1:p.Glu564AspfsTer14
NM_001351130.3:c.1692_1694delinsTC NP_001338059.1:p.Glu564AspfsTer14
NM_001351131.1:c.1803_1805delinsTC NP_001338060.1:p.Glu601AspfsTer14
NM_001351131.2:c.1803_1805delinsTC NP_001338060.1:p.Glu601AspfsTer14
NM_001351132.1:c.1803_1805delinsTC NP_001338061.1:p.Glu601AspfsTer14
NM_001351133.1:c.1803_1805delinsTC NP_001338062.1:p.Glu601AspfsTer14
NM_001351133.2:c.1803_1805delinsTC NP_001338062.1:p.Glu601AspfsTer14
NM_001351134.1:c.1803_1805delinsTC NP_001338063.1:p.Glu601AspfsTer14
NM_001351134.2:c.1803_1805delinsTC NP_001338063.1:p.Glu601AspfsTer14
NM_001351135.1:c.1800_1802delinsTC NP_001338064.1:p.Glu600AspfsTer14
NM_001351135.3:c.1737_1739delinsTC NP_001338064.2:p.Glu579AspfsTer14
NM_001351136.1:c.1794_1796delinsTC NP_001338065.1:p.Glu598AspfsTer14
NM_001351136.2:c.1794_1796delinsTC NP_001338065.1:p.Glu598AspfsTer14
NM_001351137.1:c.1755_1757delinsTC NP_001338066.1:p.Glu585AspfsTer14
NM_001351137.3:c.1692_1694delinsTC NP_001338066.2:p.Glu564AspfsTer14
NM_001351138.1:c.1737_1739delinsTC NP_001338067.1:p.Glu579AspfsTer14
NM_001351138.2:c.1737_1739delinsTC NP_001338067.1:p.Glu579AspfsTer14
NM_001351139.1:c.1668_1670delinsTC NP_001338068.1:p.Glu556AspfsTer14
NM_001351139.2:c.1668_1670delinsTC NP_001338068.1:p.Glu556AspfsTer14
NM_001351140.1:c.1668_1670delinsTC NP_001338069.1:p.Glu556AspfsTer14
NM_001351140.2:c.1668_1670delinsTC NP_001338069.1:p.Glu556AspfsTer14
NM_001374645.1:c.1692_1694delinsTC NP_001361574.1:p.Glu564AspfsTer14
NM_001374646.1:c.1692_1694delinsTC NP_001361575.1:p.Glu564AspfsTer14
NM_001374647.2:c.1803_1805delinsTC NP_001361576.1:p.Glu601AspfsTer14
NM_001374648.2:c.1692_1694delinsTC NP_001361577.1:p.Glu564AspfsTer14
NM_001374649.2:c.1668_1670delinsTC NP_001361578.1:p.Glu556AspfsTer14
ENST00000266563.9:c.1692_1694delinsTC ENSP00000266563.5:p.Glu564AspfsTer14
ENST00000266564.7:c.1779_1781delinsTC ENSP00000266564.3:p.Glu593AspfsTer14
ENST00000412720.6:c.1866_1868delinsTC ENSP00000391601.2:p.Glu622AspfsTer14
ENST00000420616.6:c.1803_1805delinsTC ENSP00000410159.2:p.Glu601AspfsTer14
ENST00000434354.6:c.1848_1850delinsTC ENSP00000407401.2:p.Glu616AspfsTer14
ENST00000455147.6:c.1803_1805delinsTC ENSP00000400647.2:p.Glu601AspfsTer14
XM_005253455.1:c.1755_1757delinsTC XP_005253512.1:p.Glu585AspfsTer14
XM_011520793.1:c.1911_1913delinsTC XP_011519095.1:p.Glu637AspfsTer14
XM_011520793.2:c.1911_1913delinsTC XP_011519095.1:p.Glu637AspfsTer14
XM_011520794.1:c.1911_1913delinsTC XP_011519096.1:p.Glu637AspfsTer14
XM_011520795.1:c.1848_1850delinsTC XP_011519097.1:p.Glu616AspfsTer14
XM_011520796.1:c.1848_1850delinsTC XP_011519098.1:p.Glu616AspfsTer14
XM_011520797.1:c.1803_1805delinsTC XP_011519099.1:p.Glu601AspfsTer14
XM_011520798.1:c.1803_1805delinsTC XP_011519100.1:p.Glu601AspfsTer14
XM_011520799.1:c.1803_1805delinsTC XP_011519101.1:p.Glu601AspfsTer14
XM_011520800.1:c.1803_1805delinsTC XP_011519102.1:p.Glu601AspfsTer14
XM_011520801.1:c.1800_1802delinsTC XP_011519103.1:p.Glu600AspfsTer14
XM_011520802.1:c.1554_1556delinsTC XP_011519104.1:p.Glu518AspfsTer14
XM_011520802.2:c.1554_1556delinsTC XP_011519104.1:p.Glu518AspfsTer14
XM_017019744.1:c.2247_2249delinsTC XP_016875233.1:p.Glu749AspfsTer14
XM_017019745.1:c.2247_2249delinsTC XP_016875234.1:p.Glu749AspfsTer14
XM_017019746.1:c.2136_2138delinsTC XP_016875235.1:p.Glu712AspfsTer14
XM_017019747.1:c.2112_2114delinsTC XP_016875236.1:p.Glu704AspfsTer14
XM_017019748.1:c.1848_1850delinsTC XP_016875237.1:p.Glu616AspfsTer14
XM_017019749.1:c.1803_1805delinsTC XP_016875238.1:p.Glu601AspfsTer14
XM_017019750.1:c.1779_1781delinsTC XP_016875239.1:p.Glu593AspfsTer14
XR_001748833.1:n.2289_2291delinsTC