Canonical Allele Identifier: CA2543218463

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15650861_15650862insCAGATCATAT , CM000668.2:g.15650861_15650862insCAGATCATAT	GRCh38
NC_000006.11:g.15651092_15651093insCAGATCATAT , CM000668.1:g.15651092_15651093insCAGATCATAT	GRCh37
NC_000006.10:g.15759071_15759072insCAGATCATAT	NCBI36
NG_009309.1:g.17179_17180insATATGATCTG , LRG_588:g.17179_17180insATATGATCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.161+451_161+452insATATGATCTG MANE Select	ENSP00000341680.6:n.161+451_161+452insATATGATCTG
ENST00000338950.9:c.161+451_161+452insATATGATCTG	ENSP00000344718.5:n.161+451_161+452insATATGATCTG
ENST00000344537.9:c.161+451_161+452insATATGATCTG	ENSP00000341680.5:n.161+451_161+452insATATGATCTG
ENST00000355917.7:c.110+1225_110+1226insATATGATCTG	ENSP00000348183.4:n.110+1225_110+1226insATATGATCTG
ENST00000506844.1:c.*159+451_*159+452insATATGATCTG	ENSP00000424202.1:n.*159+451_*159+452insATATGATCTG
ENST00000510395.5:c.*71+451_*71+452insATATGATCTG	ENSP00000424685.1:n.*71+451_*71+452insATATGATCTG
ENST00000511762.2:c.56+11952_56+11953insATATGATCTG	ENSP00000427473.2:n.56+11952_56+11953insATATGATCTG
ENST00000513680.5:c.*159+451_*159+452insATATGATCTG	ENSP00000424357.1:n.*159+451_*159+452insATATGATCTG
ENST00000515875.5:c.110+1225_110+1226insATATGATCTG	ENSP00000425495.1:n.110+1225_110+1226insATATGATCTG
ENST00000622898.4:c.56+11952_56+11953insATATGATCTG	ENSP00000481997.1:n.56+11952_56+11953insATATGATCTG
NM_001271667.1:c.-83+451_-83+452insATATGATCTG	NP_001258596.1:n.-83+451_-83+452insATATGATCTG
NM_001271668.1:c.110+1225_110+1226insATATGATCTG	NP_001258597.1:n.110+1225_110+1226insATATGATCTG
NM_001271669.1:c.56+11952_56+11953insATATGATCTG	NP_001258598.1:n.56+11952_56+11953insATATGATCTG
NM_032122.4:c.161+451_161+452insATATGATCTG , LRG_588t1:c.161+451_161+452insATATGATCTG	NP_115498.2:n.161+451_161+452insATATGATCTG
NM_183040.2:c.161+451_161+452insATATGATCTG , LRG_588t2:c.161+451_161+452insATATGATCTG	NP_898861.1:n.161+451_161+452insATATGATCTG
NR_036448.1:n.489+451_489+452insATATGATCTG
XM_005249447.3:c.122+451_122+452insATATGATCTG	XP_005249504.1:n.122+451_122+452insATATGATCTG
XM_011514936.1:c.71+1225_71+1226insATATGATCTG	XP_011513238.1:n.71+1225_71+1226insATATGATCTG
XM_005249447.4:c.122+451_122+452insATATGATCTG	XP_005249504.1:n.122+451_122+452insATATGATCTG
XM_011514936.3:c.71+1225_71+1226insATATGATCTG	XP_011513238.1:n.71+1225_71+1226insATATGATCTG
NM_032122.5:c.161+451_161+452insATATGATCTG MANE Select	NP_115498.2:n.161+451_161+452insATATGATCTG
NR_036448.2:n.459+451_459+452insATATGATCTG
NM_001271667.2:c.-83+451_-83+452insATATGATCTG	NP_001258596.1:n.-83+451_-83+452insATATGATCTG
NM_001271668.2:c.110+1225_110+1226insATATGATCTG	NP_001258597.1:n.110+1225_110+1226insATATGATCTG
NM_001271669.2:c.56+11952_56+11953insATATGATCTG	NP_001258598.1:n.56+11952_56+11953insATATGATCTG
NR_036448.3:n.459+451_459+452insATATGATCTG