Canonical Allele Identifier: CA565717315

Gene: DTNBP1

Linked Data

• dbSNP Id: rs1223167514
• gnomAD v2: 6-15638031-C-CGATA
• gnomAD v4: 6-15637800-C-CGATA
• MyVariant Identifiers: chr6:g.15638031_15638032insGATA (hg19) ; chr6:g.15637800_15637801insGATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15637800_15637801insGATA , CM000668.2:g.15637800_15637801insGATA	GRCh38
NC_000006.11:g.15638031_15638032insGATA , CM000668.1:g.15638031_15638032insGATA	GRCh37
NC_000006.10:g.15746010_15746011insGATA	NCBI36
NG_009309.1:g.30240_30241insTATC , LRG_588:g.30240_30241insTATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.165_166insTATC MANE Select	ENSP00000341680.6:p.Glu56TyrfsTer24
ENST00000338950.9:c.165_166insTATC	ENSP00000344718.5:p.Glu56TyrfsTer24
ENST00000344537.9:c.165_166insTATC	ENSP00000341680.5:p.Glu56TyrfsTer24
ENST00000355917.7:c.114_115insTATC	ENSP00000348183.4:p.Glu39TyrfsTer24
ENST00000506844.1:c.*163_*164insTATC	ENSP00000424202.1:n.*163_*164insTATC
ENST00000510395.5:c.*75_*76insTATC	ENSP00000424685.1:n.*75_*76insTATC
ENST00000511762.2:c.60_61insTATC	ENSP00000427473.2:p.Glu21TyrfsTer24
ENST00000513680.5:c.*163_*164insTATC	ENSP00000424357.1:n.*163_*164insTATC
ENST00000515875.5:c.114_115insTATC	ENSP00000425495.1:p.Glu39TyrfsTer24
ENST00000622898.4:c.60_61insTATC	ENSP00000481997.1:p.Glu21TyrfsTer24
NM_001271667.1:c.-79_-78insTATC	NP_001258596.1:n.-79_-78insTATC
NM_001271668.1:c.114_115insTATC	NP_001258597.1:p.Glu39TyrfsTer24
NM_001271669.1:c.60_61insTATC	NP_001258598.1:p.Glu21TyrfsTer24
NM_032122.4:c.165_166insTATC , LRG_588t1:c.165_166insTATC	NP_115498.2:p.Glu56TyrfsTer24
NM_183040.2:c.165_166insTATC , LRG_588t2:c.165_166insTATC	NP_898861.1:p.Glu56TyrfsTer24
NR_036448.1:n.493_494insTATC
XM_005249447.3:c.126_127insTATC	XP_005249504.1:p.Glu43TyrfsTer24
XM_011514936.1:c.75_76insTATC	XP_011513238.1:p.Glu26TyrfsTer24
XM_005249447.4:c.126_127insTATC	XP_005249504.1:p.Glu43TyrfsTer24
XM_011514936.3:c.75_76insTATC	XP_011513238.1:p.Glu26TyrfsTer24
NM_032122.5:c.165_166insTATC MANE Select	NP_115498.2:p.Glu56TyrfsTer24
NR_036448.2:n.463_464insTATC
NM_001271667.2:c.-79_-78insTATC	NP_001258596.1:n.-79_-78insTATC
NM_001271668.2:c.114_115insTATC	NP_001258597.1:p.Glu39TyrfsTer24
NM_001271669.2:c.60_61insTATC	NP_001258598.1:p.Glu21TyrfsTer24
NR_036448.3:n.463_464insTATC