Canonical Allele Identifier: CA10586277
Community Standard Title: NM_012062.5(DNM1L):c.251-1532dup
Gene: DNM1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32705835dup , CM000674.2:g.32705835dup GRCh38
NC_000012.11:g.32858769dup , CM000674.1:g.32858769dup GRCh37
NC_000012.10:g.32750036dup NCBI36
NG_012219.1:g.31633dup

Transcript Alleles

HGVS Amino-acid Change
NM_012062.5:c.251-1532dup MANE Select NP_036192.2:n.251-1532dup
ENST00000549701.6:c.251-1532dup MANE Select ENSP00000450399.1:n.251-1532dup
NM_001278464.2:c.261dup MANE Plus Clinical NP_001265393.1:p.Trp88MetfsTer9
ENST00000553257.6:c.261dup MANE Plus Clinical ENSP00000449089.1:p.Trp88MetfsTer9
NM_001278463.1:c.251-1532dup NP_001265392.1:n.251-1532dup
NM_001278463.2:c.251-1532dup NP_001265392.1:n.251-1532dup
NM_001278464.1:c.261dup NP_001265393.1:p.Trp88MetfsTer9
NM_001278465.1:c.261dup NP_001265394.1:p.Trp88MetfsTer9
NM_001278465.2:c.261dup NP_001265394.1:p.Trp88MetfsTer9
NM_001278466.1:c.56dup NP_001265395.1:p.His19GlnfsTer?
NM_001278466.2:c.56dup NP_001265395.1:p.His19GlnfsTer?
NM_001330380.1:c.261dup NP_001317309.1:p.Trp88MetfsTer9
NM_001330380.2:c.261dup NP_001317309.1:p.Trp88MetfsTer9
NM_005690.4:c.251-1532dup NP_005681.2:n.251-1532dup
NM_005690.5:c.251-1532dup NP_005681.2:n.251-1532dup
NM_012062.4:c.251-1532dup NP_036192.2:n.251-1532dup
NM_012063.3:c.251-1532dup NP_036193.2:n.251-1532dup
NM_012063.4:c.251-1532dup NP_036193.2:n.251-1532dup
ENST00000266481.10:c.251-1532dup ENSP00000266481.6:n.251-1532dup
ENST00000358214.9:c.261dup ENSP00000350948.5:p.Trp88MetfsTer9
ENST00000381000.8:c.261dup ENSP00000370388.4:p.Trp88MetfsTer9
ENST00000413295.6:c.251-1532dup ENSP00000396030.2:n.251-1532dup
ENST00000414834.6:c.56dup ENSP00000404160.2:p.His19GlnfsTer?
ENST00000434676.6:c.251-1532dup ENSP00000390090.2:n.251-1532dup
ENST00000434676.7:c.251-1532dup ENSP00000390090.2:n.251-1532dup
ENST00000452533.6:c.251-1532dup ENSP00000415131.2:n.251-1532dup
ENST00000546649.5:c.261dup ENSP00000448936.1:p.Trp88MetfsTer9
ENST00000546757.5:c.149-2318dup ENSP00000448105.1:n.149-2318dup
ENST00000546757.6:c.251-2318dup ENSP00000448105.2:n.251-2318dup
ENST00000547078.6:c.261dup ENSP00000448802.2:p.Trp88MetfsTer9
ENST00000547312.5:c.251-1532dup ENSP00000448610.1:n.251-1532dup
ENST00000547719.2:n.352dup
ENST00000547932.5:n.295-1532dup
ENST00000547932.6:c.251-1532dup ENSP00000515272.1:n.251-1532dup
ENST00000548671.5:n.314-1532dup
ENST00000548671.6:c.251-1532dup ENSP00000515271.1:n.251-1532dup
ENST00000548750.5:c.251-1532dup ENSP00000447788.1:n.251-1532dup
ENST00000548750.6:c.251-1532dup ENSP00000447788.2:n.251-1532dup
ENST00000549701.5:c.251-1532dup ENSP00000450399.1:n.251-1532dup
ENST00000549926.5:n.429-1532dup
ENST00000549926.6:c.-197-1532dup ENSP00000515263.1:n.-197-1532dup
ENST00000550011.5:n.309dup
ENST00000550011.6:c.261dup ENSP00000515261.1:p.Trp88MetfsTer9
ENST00000550093.6:n.216dup
ENST00000550154.5:c.251-1532dup ENSP00000447013.1:n.251-1532dup
ENST00000551076.5:n.299-1532dup
ENST00000551076.6:c.251-1532dup ENSP00000515275.1:n.251-1532dup
ENST00000551476.5:c.171dup ENSP00000447845.1:p.Trp58MetfsTer9
ENST00000551476.6:c.171dup ENSP00000447845.2:p.Trp58MetfsTer9
ENST00000551643.5:c.251-855dup ENSP00000450401.1:n.251-855dup
ENST00000551643.6:c.251-855dup ENSP00000450401.1:n.251-855dup
ENST00000553257.5:c.261dup ENSP00000449089.1:p.Trp88MetfsTer9
ENST00000703337.1:c.261dup ENSP00000515262.1:p.Trp88MetfsTer9
ENST00000703338.1:c.-226dup ENSP00000515264.1:n.-226dup
ENST00000703360.1:c.251-2318dup ENSP00000515270.1:n.251-2318dup
ENST00000703361.1:c.250+4273dup ENSP00000515273.1:n.250+4273dup
ENST00000703362.1:c.251-1532dup ENSP00000515274.1:n.251-1532dup
ENST00000703363.1:n.340dup
ENST00000703364.1:n.324dup
ENST00000703365.1:c.251-1532dup ENSP00000515276.1:n.251-1532dup
ENST00000703366.1:n.305dup
ENST00000703367.1:c.251-1532dup ENSP00000515277.1:n.251-1532dup
ENST00000703368.1:c.261dup ENSP00000515278.1:p.Trp88MetfsTer9
ENST00000703369.1:c.250+4273dup ENSP00000515279.1:n.250+4273dup
ENST00000703370.1:c.-197-1532dup ENSP00000515280.1:n.-197-1532dup
ENST00000703371.1:c.-197-1532dup ENSP00000515281.1:n.-197-1532dup
ENST00000703372.1:c.-111dup ENSP00000515282.1:n.-111dup
XM_005253282.3:c.261dup XP_005253339.1:p.Trp88MetfsTer9
XM_005253283.3:c.-197-1532dup XP_005253340.1:n.-197-1532dup
XM_011520543.1:c.261dup XP_011518845.1:p.Trp88MetfsTer9
XM_011520543.3:c.261dup XP_011518845.1:p.Trp88MetfsTer9
XM_011520544.1:c.-244-1532dup XP_011518846.1:n.-244-1532dup
XM_011520544.2:c.-244-1532dup XP_011518846.1:n.-244-1532dup
XM_017018663.2:c.-244-1532dup XP_016874152.1:n.-244-1532dup
XM_017018664.1:c.-244-1532dup XP_016874153.1:n.-244-1532dup
XM_017018665.1:c.-244-1532dup XP_016874154.1:n.-244-1532dup