Canonical Allele Identifier: CA1612358312

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15636677_15636678delinsCA , CM000668.2:g.15636677_15636678delinsCA	GRCh38
NC_000006.11:g.15636908_15636909delinsCA , CM000668.1:g.15636908_15636909delinsCA	GRCh37
NC_000006.10:g.15744887_15744888delinsCA	NCBI36
NG_009309.1:g.31363_31364delinsTG , LRG_588:g.31363_31364delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.222+1066_222+1067delinsTG MANE Select	ENSP00000341680.6:n.222+1066_222+1067delinsTG
ENST00000338950.9:c.222+1066_222+1067delinsTG	ENSP00000344718.5:n.222+1066_222+1067delinsTG
ENST00000344537.9:c.222+1066_222+1067delinsTG	ENSP00000341680.5:n.222+1066_222+1067delinsTG
ENST00000355917.7:c.171+1066_171+1067delinsTG	ENSP00000348183.4:n.171+1066_171+1067delinsTG
ENST00000506844.1:c.*220+1066_*220+1067delinsTG	ENSP00000424202.1:n.*220+1066_*220+1067delinsTG
ENST00000510395.5:c.*132+1066_*132+1067delinsTG	ENSP00000424685.1:n.*132+1066_*132+1067delinsTG
ENST00000511762.2:c.117+1066_117+1067delinsTG	ENSP00000427473.2:n.117+1066_117+1067delinsTG
ENST00000513680.5:c.*220+1066_*220+1067delinsTG	ENSP00000424357.1:n.*220+1066_*220+1067delinsTG
ENST00000515875.5:c.171+1066_171+1067delinsTG	ENSP00000425495.1:n.171+1066_171+1067delinsTG
ENST00000622898.4:c.117+1066_117+1067delinsTG	ENSP00000481997.1:n.117+1066_117+1067delinsTG
NM_001271667.1:c.-22+1066_-22+1067delinsTG	NP_001258596.1:n.-22+1066_-22+1067delinsTG
NM_001271668.1:c.171+1066_171+1067delinsTG	NP_001258597.1:n.171+1066_171+1067delinsTG
NM_001271669.1:c.117+1066_117+1067delinsTG	NP_001258598.1:n.117+1066_117+1067delinsTG
NM_032122.4:c.222+1066_222+1067delinsTG , LRG_588t1:c.222+1066_222+1067delinsTG	NP_115498.2:n.222+1066_222+1067delinsTG
NM_183040.2:c.222+1066_222+1067delinsTG , LRG_588t2:c.222+1066_222+1067delinsTG	NP_898861.1:n.222+1066_222+1067delinsTG
NR_036448.1:n.550+1066_550+1067delinsTG
XM_005249447.3:c.183+1066_183+1067delinsTG	XP_005249504.1:n.183+1066_183+1067delinsTG
XM_011514936.1:c.132+1066_132+1067delinsTG	XP_011513238.1:n.132+1066_132+1067delinsTG
XM_005249447.4:c.183+1066_183+1067delinsTG	XP_005249504.1:n.183+1066_183+1067delinsTG
XM_011514936.3:c.132+1066_132+1067delinsTG	XP_011513238.1:n.132+1066_132+1067delinsTG
NM_032122.5:c.222+1066_222+1067delinsTG MANE Select	NP_115498.2:n.222+1066_222+1067delinsTG
NR_036448.2:n.520+1066_520+1067delinsTG
NM_001271667.2:c.-22+1066_-22+1067delinsTG	NP_001258596.1:n.-22+1066_-22+1067delinsTG
NM_001271668.2:c.171+1066_171+1067delinsTG	NP_001258597.1:n.171+1066_171+1067delinsTG
NM_001271669.2:c.117+1066_117+1067delinsTG	NP_001258598.1:n.117+1066_117+1067delinsTG
NR_036448.3:n.520+1066_520+1067delinsTG