Canonical Allele Identifier: CA6507318
Community Standard Title: NM_012062.5(DNM1L):c.346_347del (p.Glu116LysfsTer6)
Gene: DNM1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32708201_32708202del , CM000674.2:g.32708201_32708202del GRCh38
NC_000012.11:g.32861135_32861136del , CM000674.1:g.32861135_32861136del GRCh37
NC_000012.10:g.32752402_32752403del NCBI36
NG_012219.1:g.33999_34000del

Transcript Alleles

HGVS Amino-acid Change
NM_012062.5:c.346_347del MANE Select NP_036192.2:p.Glu116LysfsTer6
ENST00000549701.6:c.346_347del MANE Select ENSP00000450399.1:p.Glu116LysfsTer6
NM_001278464.2:c.385_386del MANE Plus Clinical NP_001265393.1:p.Glu129LysfsTer6
ENST00000553257.6:c.385_386del MANE Plus Clinical ENSP00000449089.1:p.Glu129LysfsTer6
NM_001278463.1:c.346_347del NP_001265392.1:p.Glu116LysfsTer6
NM_001278463.2:c.346_347del NP_001265392.1:p.Glu116LysfsTer6
NM_001278464.1:c.385_386del NP_001265393.1:p.Glu129LysfsTer6
NM_001278465.1:c.385_386del NP_001265394.1:p.Glu129LysfsTer6
NM_001278465.2:c.385_386del NP_001265394.1:p.Glu129LysfsTer6
NM_001278466.1:c.131+788_131+789del NP_001265395.1:n.131+788_131+789del
NM_001278466.2:c.131+788_131+789del NP_001265395.1:n.131+788_131+789del
NM_001330380.1:c.385_386del NP_001317309.1:p.Glu129LysfsTer6
NM_001330380.2:c.385_386del NP_001317309.1:p.Glu129LysfsTer6
NM_005690.4:c.346_347del NP_005681.2:p.Glu116LysfsTer6
NM_005690.5:c.346_347del NP_005681.2:p.Glu116LysfsTer6
NM_012062.4:c.346_347del NP_036192.2:p.Glu116LysfsTer6
NM_012063.3:c.346_347del NP_036193.2:p.Glu116LysfsTer6
NM_012063.4:c.346_347del NP_036193.2:p.Glu116LysfsTer6
ENST00000266481.10:c.346_347del ENSP00000266481.6:p.Glu116LysfsTer6
ENST00000358214.9:c.385_386del ENSP00000350948.5:p.Glu129LysfsTer6
ENST00000381000.8:c.385_386del ENSP00000370388.4:p.Glu129LysfsTer6
ENST00000413295.6:c.346_347del ENSP00000396030.2:p.Glu116LysfsTer6
ENST00000414834.6:c.131+788_131+789del ENSP00000404160.2:n.131+788_131+789del
ENST00000434676.6:c.346_347del ENSP00000390090.2:p.Glu116LysfsTer6
ENST00000434676.7:c.346_347del ENSP00000390090.2:p.Glu116LysfsTer6
ENST00000452533.6:c.346_347del ENSP00000415131.2:p.Glu116LysfsTer6
ENST00000546649.5:c.336+788_336+789del ENSP00000448936.1:n.336+788_336+789del
ENST00000546757.5:c.197_198del ENSP00000448105.1:n.197_198del
ENST00000546757.6:c.*32_*33del ENSP00000448105.2:n.*32_*33del
ENST00000547078.6:c.385_386del ENSP00000448802.2:p.Glu129LysfsTer6
ENST00000547312.5:c.346_347del ENSP00000448610.1:p.Glu116LysfsTer6
ENST00000547719.1:n.596_597del
ENST00000547719.2:n.1979_1980del
ENST00000547932.5:n.341+788_341+789del
ENST00000547932.6:c.297+788_297+789del ENSP00000515272.1:n.297+788_297+789del
ENST00000548671.5:n.409_410del
ENST00000548671.6:c.346_347del ENSP00000515271.1:p.Glu116LysfsTer6
ENST00000548750.5:c.346_347del ENSP00000447788.1:p.Glu116LysfsTer6
ENST00000548750.6:c.346_347del ENSP00000447788.2:p.Glu116LysfsTer6
ENST00000549701.5:c.346_347del ENSP00000450399.1:p.Glu116LysfsTer6
ENST00000549926.5:n.524_525del
ENST00000549926.6:c.-102_-101del ENSP00000515263.1:n.-102_-101del
ENST00000550011.6:c.*336_*337del ENSP00000515261.1:n.*336_*337del
ENST00000550093.6:n.340_341del
ENST00000550154.5:c.297+788_297+789del ENSP00000447013.1:n.297+788_297+789del
ENST00000551076.5:n.394_395del
ENST00000551076.6:c.346_347del ENSP00000515275.1:p.Glu116LysfsTer6
ENST00000551476.5:c.295_296del ENSP00000447845.1:p.Glu99LysfsTer6
ENST00000551476.6:c.295_296del ENSP00000447845.2:p.Glu99LysfsTer6
ENST00000551643.5:c.*177_*178del ENSP00000450401.1:n.*177_*178del
ENST00000551643.6:c.*177_*178del ENSP00000450401.1:n.*177_*178del
ENST00000553257.5:c.385_386del ENSP00000449089.1:p.Glu129LysfsTer6
ENST00000703337.1:c.*143_*144del ENSP00000515262.1:n.*143_*144del
ENST00000703338.1:c.-102_-101del ENSP00000515264.1:n.-102_-101del
ENST00000703360.1:c.*32_*33del ENSP00000515270.1:n.*32_*33del
ENST00000703361.1:c.250+6639_250+6640del ENSP00000515273.1:n.250+6639_250+6640del
ENST00000703362.1:c.297+788_297+789del ENSP00000515274.1:n.297+788_297+789del
ENST00000703363.1:n.1967_1968del
ENST00000703364.1:n.1951_1952del
ENST00000703365.1:c.346_347del ENSP00000515276.1:p.Glu116LysfsTer6
ENST00000703366.1:n.1380_1381del
ENST00000703367.1:c.346_347del ENSP00000515277.1:p.Glu116LysfsTer6
ENST00000703368.1:c.385_386del ENSP00000515278.1:p.Glu129LysfsTer6
ENST00000703369.1:c.250+6639_250+6640del ENSP00000515279.1:n.250+6639_250+6640del
ENST00000703370.1:c.-102_-101del ENSP00000515280.1:n.-102_-101del
ENST00000703371.1:c.-102_-101del ENSP00000515281.1:n.-102_-101del
ENST00000703372.1:c.139_140del ENSP00000515282.1:p.Glu47LysfsTer6
XM_005253282.3:c.385_386del XP_005253339.1:p.Glu129LysfsTer6
XM_005253283.3:c.-102_-101del XP_005253340.1:n.-102_-101del
XM_011520543.1:c.385_386del XP_011518845.1:p.Glu129LysfsTer6
XM_011520543.3:c.385_386del XP_011518845.1:p.Glu129LysfsTer6
XM_011520544.1:c.-149_-148del XP_011518846.1:n.-149_-148del
XM_011520544.2:c.-149_-148del XP_011518846.1:n.-149_-148del
XM_017018663.2:c.-149_-148del XP_016874152.1:n.-149_-148del
XM_017018664.1:c.-149_-148del XP_016874153.1:n.-149_-148del
XM_017018665.1:c.-149_-148del XP_016874154.1:n.-149_-148del