Canonical Allele Identifier: CA2770108364
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15656764_15656768del , CM000668.2:g.15656764_15656768del GRCh38
NC_000006.11:g.15656995_15656999del , CM000668.1:g.15656995_15656999del GRCh37
NC_000006.10:g.15764974_15764978del NCBI36
NG_009309.1:g.11282_11286del , LRG_588:g.11282_11286del

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.57-4619_57-4615del MANE Select ENSP00000341680.6:n.57-4619_57-4615del
ENST00000338950.9:c.57-4619_57-4615del ENSP00000344718.5:n.57-4619_57-4615del
ENST00000344537.9:c.57-4619_57-4615del ENSP00000341680.5:n.57-4619_57-4615del
ENST00000355917.7:c.57-4619_57-4615del ENSP00000348183.4:n.57-4619_57-4615del
ENST00000506844.1:c.*54+3624_*54+3628del ENSP00000424202.1:n.*54+3624_*54+3628del
ENST00000510395.5:c.57-4619_57-4615del ENSP00000424685.1:n.57-4619_57-4615del
ENST00000511762.2:c.56+6055_56+6059del ENSP00000427473.2:n.56+6055_56+6059del
ENST00000513680.5:c.*54+3624_*54+3628del ENSP00000424357.1:n.*54+3624_*54+3628del
ENST00000515875.5:c.57-4619_57-4615del ENSP00000425495.1:n.57-4619_57-4615del
ENST00000622898.4:c.56+6055_56+6059del ENSP00000481997.1:n.56+6055_56+6059del
NM_001271667.1:c.-232-4619_-232-4615del NP_001258596.1:n.-232-4619_-232-4615del
NM_001271668.1:c.57-4619_57-4615del NP_001258597.1:n.57-4619_57-4615del
NM_001271669.1:c.56+6055_56+6059del NP_001258598.1:n.56+6055_56+6059del
NM_032122.4:c.57-4619_57-4615del , LRG_588t1:c.57-4619_57-4615del NP_115498.2:n.57-4619_57-4615del
NM_183040.2:c.57-4619_57-4615del , LRG_588t2:c.57-4619_57-4615del NP_898861.1:n.57-4619_57-4615del
NR_036448.1:n.384+3624_384+3628del
XM_005249447.3:c.17+3624_17+3628del XP_005249504.1:n.17+3624_17+3628del
XM_011514936.1:c.17+3624_17+3628del XP_011513238.1:n.17+3624_17+3628del
XM_005249447.4:c.17+3624_17+3628del XP_005249504.1:n.17+3624_17+3628del
XM_011514936.3:c.17+3624_17+3628del XP_011513238.1:n.17+3624_17+3628del
NM_032122.5:c.57-4619_57-4615del MANE Select NP_115498.2:n.57-4619_57-4615del
NR_036448.2:n.354+3624_354+3628del
NM_001271667.2:c.-232-4619_-232-4615del NP_001258596.1:n.-232-4619_-232-4615del
NM_001271668.2:c.57-4619_57-4615del NP_001258597.1:n.57-4619_57-4615del
NM_001271669.2:c.56+6055_56+6059del NP_001258598.1:n.56+6055_56+6059del
NR_036448.3:n.354+3624_354+3628del