Canonical Allele Identifier: CA1612387900

Gene: DTNBP1

Linked Data

• dbSNP Id: rs1760949113

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15650812_15650816dup , CM000668.2:g.15650812_15650816dup	GRCh38
NC_000006.11:g.15651043_15651047dup , CM000668.1:g.15651043_15651047dup	GRCh37
NC_000006.10:g.15759022_15759026dup	NCBI36
NG_009309.1:g.17228_17232dup , LRG_588:g.17228_17232dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.161+500_161+504dup MANE Select	ENSP00000341680.6:n.161+500_161+504dup
ENST00000338950.9:c.161+500_161+504dup	ENSP00000344718.5:n.161+500_161+504dup
ENST00000344537.9:c.161+500_161+504dup	ENSP00000341680.5:n.161+500_161+504dup
ENST00000355917.7:c.110+1274_110+1278dup	ENSP00000348183.4:n.110+1274_110+1278dup
ENST00000506844.1:c.*159+500_*159+504dup	ENSP00000424202.1:n.*159+500_*159+504dup
ENST00000510395.5:c.*71+500_*71+504dup	ENSP00000424685.1:n.*71+500_*71+504dup
ENST00000511762.2:c.56+12001_56+12005dup	ENSP00000427473.2:n.56+12001_56+12005dup
ENST00000513680.5:c.*159+500_*159+504dup	ENSP00000424357.1:n.*159+500_*159+504dup
ENST00000515875.5:c.110+1274_110+1278dup	ENSP00000425495.1:n.110+1274_110+1278dup
ENST00000622898.4:c.56+12001_56+12005dup	ENSP00000481997.1:n.56+12001_56+12005dup
NM_001271667.1:c.-83+500_-83+504dup	NP_001258596.1:n.-83+500_-83+504dup
NM_001271668.1:c.110+1274_110+1278dup	NP_001258597.1:n.110+1274_110+1278dup
NM_001271669.1:c.56+12001_56+12005dup	NP_001258598.1:n.56+12001_56+12005dup
NM_032122.4:c.161+500_161+504dup , LRG_588t1:c.161+500_161+504dup	NP_115498.2:n.161+500_161+504dup
NM_183040.2:c.161+500_161+504dup , LRG_588t2:c.161+500_161+504dup	NP_898861.1:n.161+500_161+504dup
NR_036448.1:n.489+500_489+504dup
XM_005249447.3:c.122+500_122+504dup	XP_005249504.1:n.122+500_122+504dup
XM_011514936.1:c.71+1274_71+1278dup	XP_011513238.1:n.71+1274_71+1278dup
XM_005249447.4:c.122+500_122+504dup	XP_005249504.1:n.122+500_122+504dup
XM_011514936.3:c.71+1274_71+1278dup	XP_011513238.1:n.71+1274_71+1278dup
NM_032122.5:c.161+500_161+504dup MANE Select	NP_115498.2:n.161+500_161+504dup
NR_036448.2:n.459+500_459+504dup
NM_001271667.2:c.-83+500_-83+504dup	NP_001258596.1:n.-83+500_-83+504dup
NM_001271668.2:c.110+1274_110+1278dup	NP_001258597.1:n.110+1274_110+1278dup
NM_001271669.2:c.56+12001_56+12005dup	NP_001258598.1:n.56+12001_56+12005dup
NR_036448.3:n.459+500_459+504dup