Canonical Allele Identifier: CA3643663
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15523062_15523064dup , CM000668.2:g.15523062_15523064dup GRCh38
NC_000006.11:g.15523293_15523295dup , CM000668.1:g.15523293_15523295dup GRCh37
NC_000006.10:g.15631272_15631274dup NCBI36
NG_009309.1:g.144982_144984dup , LRG_588:g.144982_144984dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.972_974dup MANE Select ENSP00000341680.6:p.Glu325_Val326insGlu
ENST00000344537.9:c.972_974dup ENSP00000341680.5:p.Glu325_Val326insGlu
ENST00000355917.7:c.921_923dup ENSP00000348183.4:p.Glu308_Val309insGlu
ENST00000462989.6:c.504_506dup ENSP00000427239.1:p.Glu169_Val170insGlu
ENST00000509674.1:c.423_425dup ENSP00000421797.1:p.Glu142_X143insGlu
ENST00000510395.5:c.*882_*884dup ENSP00000424685.1:n.*882_*884dup
ENST00000513680.5:c.*972_*974dup ENSP00000424357.1:n.*972_*974dup
ENST00000515875.5:c.*296_*298dup ENSP00000425495.1:n.*296_*298dup
ENST00000622898.4:c.867_869dup ENSP00000481997.1:p.Glu290_Val291insGlu
NM_001271667.1:c.729_731dup NP_001258596.1:p.Glu244_Val245insGlu
NM_001271668.1:c.921_923dup NP_001258597.1:p.Glu308_Val309insGlu
NM_001271669.1:c.867_869dup NP_001258598.1:p.Glu290_Val291insGlu
NM_032122.4:c.972_974dup , LRG_588t1:c.972_974dup NP_115498.2:p.Glu325_Val326insGlu
XM_005249447.3:c.933_935dup XP_005249504.1:p.Glu312_Val313insGlu
XM_011514936.1:c.882_884dup XP_011513238.1:p.Glu295_Val296insGlu
XM_011514937.1:c.504_506dup XP_011513239.1:p.Glu169_Val170insGlu
XM_005249447.4:c.933_935dup XP_005249504.1:p.Glu312_Val313insGlu
XM_011514936.3:c.882_884dup XP_011513238.1:p.Glu295_Val296insGlu
XM_011514937.2:c.504_506dup XP_011513239.1:p.Glu169_Val170insGlu
XM_017011348.1:c.522_524dup XP_016866837.1:p.Glu175_Val176insGlu
XM_017011349.1:c.519_521dup XP_016866838.1:p.Glu174_Val175insGlu
XM_024446567.1:c.573_575dup XP_024302335.1:p.Glu192_Val193insGlu
NM_032122.5:c.972_974dup MANE Select NP_115498.2:p.Glu325_Val326insGlu
NM_001271667.2:c.729_731dup NP_001258596.1:p.Glu244_Val245insGlu
NM_001271668.2:c.921_923dup NP_001258597.1:p.Glu308_Val309insGlu
NM_001271669.2:c.867_869dup NP_001258598.1:p.Glu290_Val291insGlu