Canonical Allele Identifier: CA2770094507
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15627663_15627665del , CM000668.2:g.15627663_15627665del GRCh38
NC_000006.11:g.15627894_15627896del , CM000668.1:g.15627894_15627896del GRCh37
NC_000006.10:g.15735873_15735875del NCBI36
NG_009309.1:g.40376_40378del , LRG_588:g.40376_40378del

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.223-190_223-188del MANE Select ENSP00000341680.6:n.223-190_223-188del
ENST00000338950.9:c.223-190_223-188del ENSP00000344718.5:n.223-190_223-188del
ENST00000344537.9:c.223-190_223-188del ENSP00000341680.5:n.223-190_223-188del
ENST00000355917.7:c.172-190_172-188del ENSP00000348183.4:n.172-190_172-188del
ENST00000506844.1:c.*221-190_*221-188del ENSP00000424202.1:n.*221-190_*221-188del
ENST00000510395.5:c.*133-190_*133-188del ENSP00000424685.1:n.*133-190_*133-188del
ENST00000511762.2:c.118-190_118-188del ENSP00000427473.2:n.118-190_118-188del
ENST00000513680.5:c.*221-190_*221-188del ENSP00000424357.1:n.*221-190_*221-188del
ENST00000515875.5:c.172-190_172-188del ENSP00000425495.1:n.172-190_172-188del
ENST00000622898.4:c.118-190_118-188del ENSP00000481997.1:n.118-190_118-188del
NM_001271667.1:c.-21-190_-21-188del NP_001258596.1:n.-21-190_-21-188del
NM_001271668.1:c.172-190_172-188del NP_001258597.1:n.172-190_172-188del
NM_001271669.1:c.118-190_118-188del NP_001258598.1:n.118-190_118-188del
NM_032122.4:c.223-190_223-188del , LRG_588t1:c.223-190_223-188del NP_115498.2:n.223-190_223-188del
NM_183040.2:c.223-190_223-188del , LRG_588t2:c.223-190_223-188del NP_898861.1:n.223-190_223-188del
NR_036448.1:n.551-190_551-188del
XM_005249447.3:c.184-190_184-188del XP_005249504.1:n.184-190_184-188del
XM_011514936.1:c.133-190_133-188del XP_011513238.1:n.133-190_133-188del
XM_005249447.4:c.184-190_184-188del XP_005249504.1:n.184-190_184-188del
XM_011514936.3:c.133-190_133-188del XP_011513238.1:n.133-190_133-188del
NM_032122.5:c.223-190_223-188del MANE Select NP_115498.2:n.223-190_223-188del
NR_036448.2:n.521-190_521-188del
NM_001271667.2:c.-21-190_-21-188del NP_001258596.1:n.-21-190_-21-188del
NM_001271668.2:c.172-190_172-188del NP_001258597.1:n.172-190_172-188del
NM_001271669.2:c.118-190_118-188del NP_001258598.1:n.118-190_118-188del
NR_036448.3:n.521-190_521-188del