Canonical Allele Identifier: CA2677408230

Gene: DTNBP1

Linked Data

• gnomAD v4: 6-15627425-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627430del , CM000668.2:g.15627430del	GRCh38
NC_000006.11:g.15627661del , CM000668.1:g.15627661del	GRCh37
NC_000006.10:g.15735640del	NCBI36
NG_009309.1:g.40615del , LRG_588:g.40615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.272del MANE Select	ENSP00000341680.6:p.Lys91ArgfsTer17
ENST00000338950.9:c.272del	ENSP00000344718.5:p.Lys91ArgfsTer17
ENST00000344537.9:c.272del	ENSP00000341680.5:p.Lys91ArgfsTer17
ENST00000355917.7:c.221del	ENSP00000348183.4:p.Lys74ArgfsTer17
ENST00000506844.1:c.*270del	ENSP00000424202.1:n.*270del
ENST00000510395.5:c.*182del	ENSP00000424685.1:n.*182del
ENST00000511762.2:c.167del	ENSP00000427473.2:p.Lys56ArgfsTer17
ENST00000513680.5:c.*270del	ENSP00000424357.1:n.*270del
ENST00000515875.5:c.221del	ENSP00000425495.1:p.Lys74ArgfsTer17
ENST00000622898.4:c.167del	ENSP00000481997.1:p.Lys56ArgfsTer17
NM_001271667.1:c.29del	NP_001258596.1:p.Lys10ArgfsTer17
NM_001271668.1:c.221del	NP_001258597.1:p.Lys74ArgfsTer17
NM_001271669.1:c.167del	NP_001258598.1:p.Lys56ArgfsTer17
NM_032122.4:c.272del , LRG_588t1:c.272del	NP_115498.2:p.Lys91ArgfsTer17
NM_183040.2:c.272del , LRG_588t2:c.272del	NP_898861.1:p.Lys91ArgfsTer17
NR_036448.1:n.600del
XM_005249447.3:c.233del	XP_005249504.1:p.Lys78ArgfsTer17
XM_011514936.1:c.182del	XP_011513238.1:p.Lys61ArgfsTer17
XM_005249447.4:c.233del	XP_005249504.1:p.Lys78ArgfsTer17
XM_011514936.3:c.182del	XP_011513238.1:p.Lys61ArgfsTer17
NM_032122.5:c.272del MANE Select	NP_115498.2:p.Lys91ArgfsTer17
NR_036448.2:n.570del
NM_001271667.2:c.29del	NP_001258596.1:p.Lys10ArgfsTer17
NM_001271668.2:c.221del	NP_001258597.1:p.Lys74ArgfsTer17
NM_001271669.2:c.167del	NP_001258598.1:p.Lys56ArgfsTer17
NR_036448.3:n.570del