Canonical Allele Identifier: CA1612358219
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15636621_15636622delinsAT , CM000668.2:g.15636621_15636622delinsAT GRCh38
NC_000006.11:g.15636852_15636853delinsAT , CM000668.1:g.15636852_15636853delinsAT GRCh37
NC_000006.10:g.15744831_15744832delinsAT NCBI36
NG_009309.1:g.31419_31420delinsAT , LRG_588:g.31419_31420delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000344537.10:c.222+1122_222+1123delinsAT MANE Select ENSP00000341680.6:n.222+1122_222+1123deli...
ENST00000338950.9:c.222+1122_222+1123delinsAT ENSP00000344718.5:n.222+1122_222+1123deli...
ENST00000344537.9:c.222+1122_222+1123delinsAT ENSP00000341680.5:n.222+1122_222+1123deli...
ENST00000355917.7:c.171+1122_171+1123delinsAT ENSP00000348183.4:n.171+1122_171+1123deli...
ENST00000506844.1:c.*220+1122_*220+1123delinsAT ENSP00000424202.1:n.*220+1122_*220+1123de...
ENST00000510395.5:c.*132+1122_*132+1123delinsAT ENSP00000424685.1:n.*132+1122_*132+1123de...
ENST00000511762.2:c.117+1122_117+1123delinsAT ENSP00000427473.2:n.117+1122_117+1123deli...
ENST00000513680.5:c.*220+1122_*220+1123delinsAT ENSP00000424357.1:n.*220+1122_*220+1123de...
ENST00000515875.5:c.171+1122_171+1123delinsAT ENSP00000425495.1:n.171+1122_171+1123deli...
ENST00000622898.4:c.117+1122_117+1123delinsAT ENSP00000481997.1:n.117+1122_117+1123deli...
NM_001271667.1:c.-22+1122_-22+1123delinsAT NP_001258596.1:n.-22+1122_-22+1123delinsA...
NM_001271668.1:c.171+1122_171+1123delinsAT NP_001258597.1:n.171+1122_171+1123delinsA...
NM_001271669.1:c.117+1122_117+1123delinsAT NP_001258598.1:n.117+1122_117+1123delinsA...
NM_032122.4:c.222+1122_222+1123delinsAT , LRG_588t1:c.222+1122_222+1123delinsAT NP_115498.2:n.222+1122_222+1123delinsAT
NM_183040.2:c.222+1122_222+1123delinsAT , LRG_588t2:c.222+1122_222+1123delinsAT NP_898861.1:n.222+1122_222+1123delinsAT
NR_036448.1:n.550+1122_550+1123delinsAT
XM_005249447.3:c.183+1122_183+1123delinsAT XP_005249504.1:n.183+1122_183+1123delinsA...
XM_011514936.1:c.132+1122_132+1123delinsAT XP_011513238.1:n.132+1122_132+1123delinsA...
XM_005249447.4:c.183+1122_183+1123delinsAT XP_005249504.1:n.183+1122_183+1123delinsA...
XM_011514936.3:c.132+1122_132+1123delinsAT XP_011513238.1:n.132+1122_132+1123delinsA...
NM_032122.5:c.222+1122_222+1123delinsAT MANE Select NP_115498.2:n.222+1122_222+1123delinsAT
NR_036448.2:n.520+1122_520+1123delinsAT
NM_001271667.2:c.-22+1122_-22+1123delinsAT NP_001258596.1:n.-22+1122_-22+1123delinsA...
NM_001271668.2:c.171+1122_171+1123delinsAT NP_001258597.1:n.171+1122_171+1123delinsA...
NM_001271669.2:c.117+1122_117+1123delinsAT NP_001258598.1:n.117+1122_117+1123delinsA...
NR_036448.3:n.520+1122_520+1123delinsAT