Canonical Allele Identifier: CA2618221143

Gene: DNM1L YARS2

Linked Data

• gnomAD v4: 12-32731071-A-ATC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32731073_32731074dup , CM000674.2:g.32731073_32731074dup	GRCh38
NC_000012.11:g.32884007_32884008dup , CM000674.1:g.32884007_32884008dup	GRCh37
NC_000012.10:g.32775274_32775275dup	NCBI36
NG_012219.1:g.56871_56872dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000434676.7:c.*505_*506dup (DNM1L)	ENSP00000390090.2:n.*505_*506dup
ENST00000546757.6:c.*825_*826dup (DNM1L)	ENSP00000448105.2:n.*825_*826dup
ENST00000547078.6:c.1178_1179dup (DNM1L)	ENSP00000448802.2:p.Val394LeufsTer14
ENST00000547719.2:n.2772_2773dup (DNM1L)
ENST00000547932.6:c.*505_*506dup (DNM1L)	ENSP00000515272.1:n.*505_*506dup
ENST00000548671.6:c.*686_*687dup (DNM1L)	ENSP00000515271.1:n.*686_*687dup
ENST00000548750.6:c.1052_1053dup (DNM1L)	ENSP00000447788.2:p.Val352LeufsTer14
ENST00000549926.6:c.692_693dup (DNM1L)	ENSP00000515263.1:p.Val232LeufsTer14
ENST00000550011.6:c.*1129_*1130dup (DNM1L)	ENSP00000515261.1:n.*1129_*1130dup
ENST00000550093.6:n.1226_1227dup (DNM1L)
ENST00000551076.6:c.*756_*757dup (DNM1L)	ENSP00000515275.1:n.*756_*757dup
ENST00000551476.6:c.1088_1089dup (DNM1L)	ENSP00000447845.2:p.Val364LeufsTer14
ENST00000551643.6:c.*970_*971dup (DNM1L)	ENSP00000450401.1:n.*970_*971dup
ENST00000703337.1:c.*936_*937dup (DNM1L)	ENSP00000515262.1:n.*936_*937dup
ENST00000703338.1:c.692_693dup (DNM1L)	ENSP00000515264.1:p.Val232LeufsTer14
ENST00000703360.1:c.*825_*826dup (DNM1L)	ENSP00000515270.1:n.*825_*826dup
ENST00000703361.1:c.770_771dup (DNM1L)	ENSP00000515273.1:p.Val258LeufsTer14
ENST00000703362.1:c.*505_*506dup (DNM1L)	ENSP00000515274.1:n.*505_*506dup
ENST00000703363.1:n.2760_2761dup (DNM1L)
ENST00000703364.1:n.2837_2838dup (DNM1L)
ENST00000703365.1:c.*4_*5dup (DNM1L)	ENSP00000515276.1:n.*4_*5dup
ENST00000703366.1:n.2199_2200dup (DNM1L)
ENST00000703367.1:c.1139_1140dup (DNM1L)	ENSP00000515277.1:p.Val381LeufsTer14
ENST00000703368.1:c.*686_*687dup (DNM1L)	ENSP00000515278.1:n.*686_*687dup
ENST00000703369.1:c.770_771dup (DNM1L)	ENSP00000515279.1:p.Val258LeufsTer14
ENST00000703370.1:c.692_693dup (DNM1L)	ENSP00000515280.1:p.Val232LeufsTer14
ENST00000703371.1:c.692_693dup (DNM1L)	ENSP00000515281.1:p.Val232LeufsTer14
ENST00000703372.1:c.932_933dup (DNM1L)	ENSP00000515282.1:p.Val312LeufsTer14
ENST00000549701.6:c.1139_1140dup (DNM1L) MANE Select	ENSP00000450399.1:p.Val381LeufsTer14
ENST00000553257.6:c.1178_1179dup (DNM1L) MANE Plus Clinical	ENSP00000449089.1:p.Val394LeufsTer14
ENST00000266481.10:c.1139_1140dup (DNM1L)	ENSP00000266481.6:p.Val381LeufsTer14
ENST00000358214.9:c.1178_1179dup (DNM1L)	ENSP00000350948.5:p.Val394LeufsTer14
ENST00000381000.8:c.1178_1179dup (DNM1L)	ENSP00000370388.4:p.Val394LeufsTer14
ENST00000413295.6:c.*388_*389dup (DNM1L)	ENSP00000396030.2:n.*388_*389dup
ENST00000414834.6:c.530_531dup (DNM1L)	ENSP00000404160.2:p.Val178LeufsTer14
ENST00000452533.6:c.1139_1140dup (DNM1L)	ENSP00000415131.2:p.Val381LeufsTer14
ENST00000546649.5:c.*381_*382dup (DNM1L)	ENSP00000448936.1:n.*381_*382dup
ENST00000546757.5:c.990_991dup (DNM1L)	ENSP00000448105.1:n.990_991dup
ENST00000547312.5:c.1139_1140dup (DNM1L)	ENSP00000448610.1:p.Val381LeufsTer14
ENST00000549701.5:c.1139_1140dup (DNM1L)	ENSP00000450399.1:p.Val381LeufsTer14
ENST00000551673.5:n.460-3554_460-3553dup (YARS2)
ENST00000553257.5:c.1178_1179dup (DNM1L)	ENSP00000449089.1:p.Val394LeufsTer14
NM_001278463.1:c.1139_1140dup (DNM1L)	NP_001265392.1:p.Val381LeufsTer14
NM_001278464.1:c.1178_1179dup (DNM1L)	NP_001265393.1:p.Val394LeufsTer14
NM_001278465.1:c.1178_1179dup (DNM1L)	NP_001265394.1:p.Val394LeufsTer14
NM_001278466.1:c.530_531dup (DNM1L)	NP_001265395.1:p.Val178LeufsTer14
NM_005690.4:c.1139_1140dup (DNM1L)	NP_005681.2:p.Val381LeufsTer14
NM_012062.4:c.1139_1140dup (DNM1L)	NP_036192.2:p.Val381LeufsTer14
NM_012063.3:c.1139_1140dup (DNM1L)	NP_036193.2:p.Val381LeufsTer14
XM_005253282.3:c.1178_1179dup (DNM1L)	XP_005253339.1:p.Val394LeufsTer14
XM_005253283.3:c.692_693dup (DNM1L)	XP_005253340.1:p.Val232LeufsTer14
XM_011520543.1:c.1178_1179dup (DNM1L)	XP_011518845.1:p.Val394LeufsTer14
XM_011520544.1:c.482_483dup (DNM1L)	XP_011518846.1:p.Val162LeufsTer14
XR_242891.3:n.1832+559_1832+560dup (YARS2)
XR_242892.3:n.1650-5708_1650-5707dup (YARS2)
XR_429036.1:n.1707+559_1707+560dup (YARS2)
XR_931297.1:n.1832+559_1832+560dup (YARS2)
XR_931298.1:n.1707+559_1707+560dup (YARS2)
XR_931299.1:n.1650-3554_1650-3553dup (YARS2)
NM_001330380.1:c.1178_1179dup (DNM1L)	NP_001317309.1:p.Val394LeufsTer14
XM_011520543.3:c.1178_1179dup (DNM1L)	XP_011518845.1:p.Val394LeufsTer14
XM_011520544.2:c.482_483dup (DNM1L)	XP_011518846.1:p.Val162LeufsTer14
XM_017018663.2:c.482_483dup (DNM1L)	XP_016874152.1:p.Val162LeufsTer14
XM_017018664.1:c.482_483dup (DNM1L)	XP_016874153.1:p.Val162LeufsTer14
XM_017018665.1:c.482_483dup (DNM1L)	XP_016874154.1:p.Val162LeufsTer14
XR_001748730.2:n.2272-5708_2272-5707dup (YARS2)
XR_002957331.1:n.2147-3554_2147-3553dup (YARS2)
XR_242892.5:n.2147-5708_2147-5707dup (YARS2)
NM_012062.5:c.1139_1140dup (DNM1L) MANE Select	NP_036192.2:p.Val381LeufsTer14
NM_001278463.2:c.1139_1140dup (DNM1L)	NP_001265392.1:p.Val381LeufsTer14
NM_001278464.2:c.1178_1179dup (DNM1L) MANE Plus Clinical	NP_001265393.1:p.Val394LeufsTer14
NM_001278465.2:c.1178_1179dup (DNM1L)	NP_001265394.1:p.Val394LeufsTer14
NM_001278466.2:c.530_531dup (DNM1L)	NP_001265395.1:p.Val178LeufsTer14
NM_001330380.2:c.1178_1179dup (DNM1L)	NP_001317309.1:p.Val394LeufsTer14
NM_005690.5:c.1139_1140dup (DNM1L)	NP_005681.2:p.Val381LeufsTer14
NM_012063.4:c.1139_1140dup (DNM1L)	NP_036193.2:p.Val381LeufsTer14