Canonical Allele Identifier: CA917682854
Gene: DTNBP1 HGNC NCBI

Linked Data

dbSNP Id: rs58633601

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15627800_15627802dup , CM000668.2:g.15627800_15627802dup GRCh38
NC_000006.11:g.15628031_15628033dup , CM000668.1:g.15628031_15628033dup GRCh37
NC_000006.10:g.15736010_15736012dup NCBI36
NG_009309.1:g.40248_40250dup , LRG_588:g.40248_40250dup

Transcript Alleles

HGVS Amino-acid change
ENST00000344537.10:c.223-318_223-316dup MANE Select ENSP00000341680.6:n.223-318_223-316dup
ENST00000338950.9:c.223-318_223-316dup ENSP00000344718.5:n.223-318_223-316dup
ENST00000344537.9:c.223-318_223-316dup ENSP00000341680.5:n.223-318_223-316dup
ENST00000355917.7:c.172-318_172-316dup ENSP00000348183.4:n.172-318_172-316dup
ENST00000506844.1:c.*221-318_*221-316dup ENSP00000424202.1:n.*221-318_*221-316dup
ENST00000510395.5:c.*133-318_*133-316dup ENSP00000424685.1:n.*133-318_*133-316dup
ENST00000511762.2:c.118-318_118-316dup ENSP00000427473.2:n.118-318_118-316dup
ENST00000513680.5:c.*221-318_*221-316dup ENSP00000424357.1:n.*221-318_*221-316dup
ENST00000515875.5:c.172-318_172-316dup ENSP00000425495.1:n.172-318_172-316dup
ENST00000622898.4:c.118-318_118-316dup ENSP00000481997.1:n.118-318_118-316dup
NM_001271667.1:c.-21-318_-21-316dup NP_001258596.1:n.-21-318_-21-316dup
NM_001271668.1:c.172-318_172-316dup NP_001258597.1:n.172-318_172-316dup
NM_001271669.1:c.118-318_118-316dup NP_001258598.1:n.118-318_118-316dup
NM_032122.4:c.223-318_223-316dup , LRG_588t1:c.223-318_223-316dup NP_115498.2:n.223-318_223-316dup
NM_183040.2:c.223-318_223-316dup , LRG_588t2:c.223-318_223-316dup NP_898861.1:n.223-318_223-316dup
NR_036448.1:n.551-318_551-316dup
XM_005249447.3:c.184-318_184-316dup XP_005249504.1:n.184-318_184-316dup
XM_011514936.1:c.133-318_133-316dup XP_011513238.1:n.133-318_133-316dup
XM_005249447.4:c.184-318_184-316dup XP_005249504.1:n.184-318_184-316dup
XM_011514936.3:c.133-318_133-316dup XP_011513238.1:n.133-318_133-316dup
NM_032122.5:c.223-318_223-316dup MANE Select NP_115498.2:n.223-318_223-316dup
NR_036448.2:n.521-318_521-316dup
NM_001271667.2:c.-21-318_-21-316dup NP_001258596.1:n.-21-318_-21-316dup
NM_001271668.2:c.172-318_172-316dup NP_001258597.1:n.172-318_172-316dup
NM_001271669.2:c.118-318_118-316dup NP_001258598.1:n.118-318_118-316dup
NR_036448.3:n.521-318_521-316dup