Canonical Allele Identifier: CA1612358259
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15636629_15636630delinsTC , CM000668.2:g.15636629_15636630delinsTC GRCh38
NC_000006.11:g.15636860_15636861delinsTC , CM000668.1:g.15636860_15636861delinsTC GRCh37
NC_000006.10:g.15744839_15744840delinsTC NCBI36
NG_009309.1:g.31411_31412delinsGA , LRG_588:g.31411_31412delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000344537.10:c.222+1114_222+1115delinsGA MANE Select ENSP00000341680.6:n.222+1114_222+1115deli...
ENST00000338950.9:c.222+1114_222+1115delinsGA ENSP00000344718.5:n.222+1114_222+1115deli...
ENST00000344537.9:c.222+1114_222+1115delinsGA ENSP00000341680.5:n.222+1114_222+1115deli...
ENST00000355917.7:c.171+1114_171+1115delinsGA ENSP00000348183.4:n.171+1114_171+1115deli...
ENST00000506844.1:c.*220+1114_*220+1115delinsGA ENSP00000424202.1:n.*220+1114_*220+1115de...
ENST00000510395.5:c.*132+1114_*132+1115delinsGA ENSP00000424685.1:n.*132+1114_*132+1115de...
ENST00000511762.2:c.117+1114_117+1115delinsGA ENSP00000427473.2:n.117+1114_117+1115deli...
ENST00000513680.5:c.*220+1114_*220+1115delinsGA ENSP00000424357.1:n.*220+1114_*220+1115de...
ENST00000515875.5:c.171+1114_171+1115delinsGA ENSP00000425495.1:n.171+1114_171+1115deli...
ENST00000622898.4:c.117+1114_117+1115delinsGA ENSP00000481997.1:n.117+1114_117+1115deli...
NM_001271667.1:c.-22+1114_-22+1115delinsGA NP_001258596.1:n.-22+1114_-22+1115delinsG...
NM_001271668.1:c.171+1114_171+1115delinsGA NP_001258597.1:n.171+1114_171+1115delinsG...
NM_001271669.1:c.117+1114_117+1115delinsGA NP_001258598.1:n.117+1114_117+1115delinsG...
NM_032122.4:c.222+1114_222+1115delinsGA , LRG_588t1:c.222+1114_222+1115delinsGA NP_115498.2:n.222+1114_222+1115delinsGA
NM_183040.2:c.222+1114_222+1115delinsGA , LRG_588t2:c.222+1114_222+1115delinsGA NP_898861.1:n.222+1114_222+1115delinsGA
NR_036448.1:n.550+1114_550+1115delinsGA
XM_005249447.3:c.183+1114_183+1115delinsGA XP_005249504.1:n.183+1114_183+1115delinsG...
XM_011514936.1:c.132+1114_132+1115delinsGA XP_011513238.1:n.132+1114_132+1115delinsG...
XM_005249447.4:c.183+1114_183+1115delinsGA XP_005249504.1:n.183+1114_183+1115delinsG...
XM_011514936.3:c.132+1114_132+1115delinsGA XP_011513238.1:n.132+1114_132+1115delinsG...
NM_032122.5:c.222+1114_222+1115delinsGA MANE Select NP_115498.2:n.222+1114_222+1115delinsGA
NR_036448.2:n.520+1114_520+1115delinsGA
NM_001271667.2:c.-22+1114_-22+1115delinsGA NP_001258596.1:n.-22+1114_-22+1115delinsG...
NM_001271668.2:c.171+1114_171+1115delinsGA NP_001258597.1:n.171+1114_171+1115delinsG...
NM_001271669.2:c.117+1114_117+1115delinsGA NP_001258598.1:n.117+1114_117+1115delinsG...
NR_036448.3:n.520+1114_520+1115delinsGA