Canonical Allele Identifier: CA1086292691

Gene: DTNBP1

Linked Data

• dbSNP Id: rs1759407788
• gnomAD v3: 6-15627363-TC-T
• gnomAD v4: 6-15627363-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627364del , CM000668.2:g.15627364del	GRCh38
NC_000006.11:g.15627595del , CM000668.1:g.15627595del	GRCh37
NC_000006.10:g.15735574del	NCBI36
NG_009309.1:g.40677del , LRG_588:g.40677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.334del MANE Select	ENSP00000341680.6:p.Glu112AsnfsTer3
ENST00000338950.9:c.334del	ENSP00000344718.5:p.Glu112AsnfsTer3
ENST00000344537.9:c.334del	ENSP00000341680.5:p.Glu112AsnfsTer3
ENST00000355917.7:c.283del	ENSP00000348183.4:p.Glu95AsnfsTer3
ENST00000506844.1:c.*332del	ENSP00000424202.1:n.*332del
ENST00000510395.5:c.*244del	ENSP00000424685.1:n.*244del
ENST00000511762.2:c.229del	ENSP00000427473.2:p.Glu77AsnfsTer3
ENST00000513680.5:c.*332del	ENSP00000424357.1:n.*332del
ENST00000515875.5:c.283del	ENSP00000425495.1:p.Glu95AsnfsTer3
ENST00000622898.4:c.229del	ENSP00000481997.1:p.Glu77AsnfsTer3
NM_001271667.1:c.91del	NP_001258596.1:p.Glu31AsnfsTer3
NM_001271668.1:c.283del	NP_001258597.1:p.Glu95AsnfsTer3
NM_001271669.1:c.229del	NP_001258598.1:p.Glu77AsnfsTer3
NM_032122.4:c.334del , LRG_588t1:c.334del	NP_115498.2:p.Glu112AsnfsTer3
NM_183040.2:c.334del , LRG_588t2:c.334del	NP_898861.1:p.Glu112AsnfsTer3
NR_036448.1:n.662del
XM_005249447.3:c.295del	XP_005249504.1:p.Glu99AsnfsTer3
XM_011514936.1:c.244del	XP_011513238.1:p.Glu82AsnfsTer3
XM_005249447.4:c.295del	XP_005249504.1:p.Glu99AsnfsTer3
XM_011514936.3:c.244del	XP_011513238.1:p.Glu82AsnfsTer3
NM_032122.5:c.334del MANE Select	NP_115498.2:p.Glu112AsnfsTer3
NR_036448.2:n.632del
NM_001271667.2:c.91del	NP_001258596.1:p.Glu31AsnfsTer3
NM_001271668.2:c.283del	NP_001258597.1:p.Glu95AsnfsTer3
NM_001271669.2:c.229del	NP_001258598.1:p.Glu77AsnfsTer3
NR_036448.3:n.632del