Canonical Allele Identifier: CA2578535003

Gene: DTNBP1

Linked Data

• gnomAD v4: 6-15627472-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627472_15627473insA , CM000668.2:g.15627472_15627473insA	GRCh38
NC_000006.11:g.15627703_15627704insA , CM000668.1:g.15627703_15627704insA	GRCh37
NC_000006.10:g.15735682_15735683insA	NCBI36
NG_009309.1:g.40568_40569insT , LRG_588:g.40568_40569insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.225_226insT MANE Select	ENSP00000341680.6:p.Val76CysfsTer3
ENST00000338950.9:c.225_226insT	ENSP00000344718.5:p.Val76CysfsTer3
ENST00000344537.9:c.225_226insT	ENSP00000341680.5:p.Val76CysfsTer3
ENST00000355917.7:c.174_175insT	ENSP00000348183.4:p.Val59CysfsTer3
ENST00000506844.1:c.*223_*224insT	ENSP00000424202.1:n.*223_*224insT
ENST00000510395.5:c.*135_*136insT	ENSP00000424685.1:n.*135_*136insT
ENST00000511762.2:c.120_121insT	ENSP00000427473.2:p.Val41CysfsTer3
ENST00000513680.5:c.*223_*224insT	ENSP00000424357.1:n.*223_*224insT
ENST00000515875.5:c.174_175insT	ENSP00000425495.1:p.Val59CysfsTer3
ENST00000622898.4:c.120_121insT	ENSP00000481997.1:p.Val41CysfsTer3
NM_001271667.1:c.-19_-18insT	NP_001258596.1:n.-19_-18insT
NM_001271668.1:c.174_175insT	NP_001258597.1:p.Val59CysfsTer3
NM_001271669.1:c.120_121insT	NP_001258598.1:p.Val41CysfsTer3
NM_032122.4:c.225_226insT , LRG_588t1:c.225_226insT	NP_115498.2:p.Val76CysfsTer3
NM_183040.2:c.225_226insT , LRG_588t2:c.225_226insT	NP_898861.1:p.Val76CysfsTer3
NR_036448.1:n.553_554insT
XM_005249447.3:c.186_187insT	XP_005249504.1:p.Val63CysfsTer3
XM_011514936.1:c.135_136insT	XP_011513238.1:p.Val46CysfsTer3
XM_005249447.4:c.186_187insT	XP_005249504.1:p.Val63CysfsTer3
XM_011514936.3:c.135_136insT	XP_011513238.1:p.Val46CysfsTer3
NM_032122.5:c.225_226insT MANE Select	NP_115498.2:p.Val76CysfsTer3
NR_036448.2:n.523_524insT
NM_001271667.2:c.-19_-18insT	NP_001258596.1:n.-19_-18insT
NM_001271668.2:c.174_175insT	NP_001258597.1:p.Val59CysfsTer3
NM_001271669.2:c.120_121insT	NP_001258598.1:p.Val41CysfsTer3
NR_036448.3:n.523_524insT