Canonical Allele Identifier: CA3643664
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15523062_15523064del , CM000668.2:g.15523062_15523064del GRCh38
NC_000006.11:g.15523293_15523295del , CM000668.1:g.15523293_15523295del GRCh37
NC_000006.10:g.15631272_15631274del NCBI36
NG_009309.1:g.144982_144984del , LRG_588:g.144982_144984del

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.972_974del MANE Select ENSP00000341680.6:p.Glu325del
ENST00000344537.9:c.972_974del ENSP00000341680.5:p.Glu325del
ENST00000355917.7:c.921_923del ENSP00000348183.4:p.Glu308del
ENST00000462989.6:c.504_506del ENSP00000427239.1:p.Glu169del
ENST00000509674.1:c.423_425del ENSP00000421797.1:p.Glu142del
ENST00000510395.5:c.*882_*884del ENSP00000424685.1:n.*882_*884del
ENST00000513680.5:c.*972_*974del ENSP00000424357.1:n.*972_*974del
ENST00000515875.5:c.*296_*298del ENSP00000425495.1:n.*296_*298del
ENST00000622898.4:c.867_869del ENSP00000481997.1:p.Glu290del
NM_001271667.1:c.729_731del NP_001258596.1:p.Glu244del
NM_001271668.1:c.921_923del NP_001258597.1:p.Glu308del
NM_001271669.1:c.867_869del NP_001258598.1:p.Glu290del
NM_032122.4:c.972_974del , LRG_588t1:c.972_974del NP_115498.2:p.Glu325del
XM_005249447.3:c.933_935del XP_005249504.1:p.Glu312del
XM_011514936.1:c.882_884del XP_011513238.1:p.Glu295del
XM_011514937.1:c.504_506del XP_011513239.1:p.Glu169del
XM_005249447.4:c.933_935del XP_005249504.1:p.Glu312del
XM_011514936.3:c.882_884del XP_011513238.1:p.Glu295del
XM_011514937.2:c.504_506del XP_011513239.1:p.Glu169del
XM_017011348.1:c.522_524del XP_016866837.1:p.Glu175del
XM_017011349.1:c.519_521del XP_016866838.1:p.Glu174del
XM_024446567.1:c.573_575del XP_024302335.1:p.Glu192del
NM_032122.5:c.972_974del MANE Select NP_115498.2:p.Glu325del
NM_001271667.2:c.729_731del NP_001258596.1:p.Glu244del
NM_001271668.2:c.921_923del NP_001258597.1:p.Glu308del
NM_001271669.2:c.867_869del NP_001258598.1:p.Glu290del