Canonical Allele Identifier: CA2770094502

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627531_15627532insTACGTTATT , CM000668.2:g.15627531_15627532insTACGTTATT	GRCh38
NC_000006.11:g.15627762_15627763insTACGTTATT , CM000668.1:g.15627762_15627763insTACGTTATT	GRCh37
NC_000006.10:g.15735741_15735742insTACGTTATT	NCBI36
NG_009309.1:g.40510_40511insATAACGTAA , LRG_588:g.40510_40511insATAACGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.223-56_223-55insATAACGTAA MANE Select	ENSP00000341680.6:n.223-56_223-55insATAACGTAA
ENST00000338950.9:c.223-56_223-55insATAACGTAA	ENSP00000344718.5:n.223-56_223-55insATAACGTAA
ENST00000344537.9:c.223-56_223-55insATAACGTAA	ENSP00000341680.5:n.223-56_223-55insATAACGTAA
ENST00000355917.7:c.172-56_172-55insATAACGTAA	ENSP00000348183.4:n.172-56_172-55insATAACGTAA
ENST00000506844.1:c.*221-56_*221-55insATAACGTAA	ENSP00000424202.1:n.*221-56_*221-55insATAACGTAA
ENST00000510395.5:c.*133-56_*133-55insATAACGTAA	ENSP00000424685.1:n.*133-56_*133-55insATAACGTAA
ENST00000511762.2:c.118-56_118-55insATAACGTAA	ENSP00000427473.2:n.118-56_118-55insATAACGTAA
ENST00000513680.5:c.*221-56_*221-55insATAACGTAA	ENSP00000424357.1:n.*221-56_*221-55insATAACGTAA
ENST00000515875.5:c.172-56_172-55insATAACGTAA	ENSP00000425495.1:n.172-56_172-55insATAACGTAA
ENST00000622898.4:c.118-56_118-55insATAACGTAA	ENSP00000481997.1:n.118-56_118-55insATAACGTAA
NM_001271667.1:c.-21-56_-21-55insATAACGTAA	NP_001258596.1:n.-21-56_-21-55insATAACGTAA
NM_001271668.1:c.172-56_172-55insATAACGTAA	NP_001258597.1:n.172-56_172-55insATAACGTAA
NM_001271669.1:c.118-56_118-55insATAACGTAA	NP_001258598.1:n.118-56_118-55insATAACGTAA
NM_032122.4:c.223-56_223-55insATAACGTAA , LRG_588t1:c.223-56_223-55insATAACGTAA	NP_115498.2:n.223-56_223-55insATAACGTAA
NM_183040.2:c.223-56_223-55insATAACGTAA , LRG_588t2:c.223-56_223-55insATAACGTAA	NP_898861.1:n.223-56_223-55insATAACGTAA
NR_036448.1:n.551-56_551-55insATAACGTAA
XM_005249447.3:c.184-56_184-55insATAACGTAA	XP_005249504.1:n.184-56_184-55insATAACGTAA
XM_011514936.1:c.133-56_133-55insATAACGTAA	XP_011513238.1:n.133-56_133-55insATAACGTAA
XM_005249447.4:c.184-56_184-55insATAACGTAA	XP_005249504.1:n.184-56_184-55insATAACGTAA
XM_011514936.3:c.133-56_133-55insATAACGTAA	XP_011513238.1:n.133-56_133-55insATAACGTAA
NM_032122.5:c.223-56_223-55insATAACGTAA MANE Select	NP_115498.2:n.223-56_223-55insATAACGTAA
NR_036448.2:n.521-56_521-55insATAACGTAA
NM_001271667.2:c.-21-56_-21-55insATAACGTAA	NP_001258596.1:n.-21-56_-21-55insATAACGTAA
NM_001271668.2:c.172-56_172-55insATAACGTAA	NP_001258597.1:n.172-56_172-55insATAACGTAA
NM_001271669.2:c.118-56_118-55insATAACGTAA	NP_001258598.1:n.118-56_118-55insATAACGTAA
NR_036448.3:n.521-56_521-55insATAACGTAA