Canonical Allele Identifier: CA1612358288
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15636655_15636668delinsGGGATGTAGCCACC , CM000668.2:g.15636655_15636668delinsGGGATGTAGCCACC GRCh38
NC_000006.11:g.15636886_15636899delinsGGGATGTAGCCACC , CM000668.1:g.15636886_15636899delinsGGGATGTAGCCACC GRCh37
NC_000006.10:g.15744865_15744878delinsGGGATGTAGCCACC NCBI36
NG_009309.1:g.31373_31386delinsGGTGGCTACATCCC , LRG_588:g.31373_31386delinsGGTGGCTACATCCC

Transcript Alleles

HGVS Amino-acid change
ENST00000344537.10:c.222+1076_222+1089delinsGGTGGCTACATCCC MANE Select ENSP00000341680.6:n.222+1076_222+1089deli...
ENST00000338950.9:c.222+1076_222+1089delinsGGTGGCTACATCCC ENSP00000344718.5:n.222+1076_222+1089deli...
ENST00000344537.9:c.222+1076_222+1089delinsGGTGGCTACATCCC ENSP00000341680.5:n.222+1076_222+1089deli...
ENST00000355917.7:c.171+1076_171+1089delinsGGTGGCTACATCCC ENSP00000348183.4:n.171+1076_171+1089deli...
ENST00000506844.1:c.*220+1076_*220+1089delinsGGTGGCTACATCCC ENSP00000424202.1:n.*220+1076_*220+1089de...
ENST00000510395.5:c.*132+1076_*132+1089delinsGGTGGCTACATCCC ENSP00000424685.1:n.*132+1076_*132+1089de...
ENST00000511762.2:c.117+1076_117+1089delinsGGTGGCTACATCCC ENSP00000427473.2:n.117+1076_117+1089deli...
ENST00000513680.5:c.*220+1076_*220+1089delinsGGTGGCTACATCCC ENSP00000424357.1:n.*220+1076_*220+1089de...
ENST00000515875.5:c.171+1076_171+1089delinsGGTGGCTACATCCC ENSP00000425495.1:n.171+1076_171+1089deli...
ENST00000622898.4:c.117+1076_117+1089delinsGGTGGCTACATCCC ENSP00000481997.1:n.117+1076_117+1089deli...
NM_001271667.1:c.-22+1076_-22+1089delinsGGTGGCTACATCCC NP_001258596.1:n.-22+1076_-22+1089delinsG...
NM_001271668.1:c.171+1076_171+1089delinsGGTGGCTACATCCC NP_001258597.1:n.171+1076_171+1089delinsG...
NM_001271669.1:c.117+1076_117+1089delinsGGTGGCTACATCCC NP_001258598.1:n.117+1076_117+1089delinsG...
NM_032122.4:c.222+1076_222+1089delinsGGTGGCTACATCCC , LRG_588t1:c.222+1076_222+1089delinsGGTGGCTACATCCC NP_115498.2:n.222+1076_222+1089delinsGGTG...
NM_183040.2:c.222+1076_222+1089delinsGGTGGCTACATCCC , LRG_588t2:c.222+1076_222+1089delinsGGTGGCTACATCCC NP_898861.1:n.222+1076_222+1089delinsGGTG...
NR_036448.1:n.550+1076_550+1089delinsGGTGGCTACATCCC
XM_005249447.3:c.183+1076_183+1089delinsGGTGGCTACATCCC XP_005249504.1:n.183+1076_183+1089delinsG...
XM_011514936.1:c.132+1076_132+1089delinsGGTGGCTACATCCC XP_011513238.1:n.132+1076_132+1089delinsG...
XM_005249447.4:c.183+1076_183+1089delinsGGTGGCTACATCCC XP_005249504.1:n.183+1076_183+1089delinsG...
XM_011514936.3:c.132+1076_132+1089delinsGGTGGCTACATCCC XP_011513238.1:n.132+1076_132+1089delinsG...
NM_032122.5:c.222+1076_222+1089delinsGGTGGCTACATCCC MANE Select NP_115498.2:n.222+1076_222+1089delinsGGTG...
NR_036448.2:n.520+1076_520+1089delinsGGTGGCTACATCCC
NM_001271667.2:c.-22+1076_-22+1089delinsGGTGGCTACATCCC NP_001258596.1:n.-22+1076_-22+1089delinsG...
NM_001271668.2:c.171+1076_171+1089delinsGGTGGCTACATCCC NP_001258597.1:n.171+1076_171+1089delinsG...
NM_001271669.2:c.117+1076_117+1089delinsGGTGGCTACATCCC NP_001258598.1:n.117+1076_117+1089delinsG...
NR_036448.3:n.520+1076_520+1089delinsGGTGGCTACATCCC