Canonical Allele Identifier: CA1086292685

Gene: DTNBP1

Linked Data

• dbSNP Id: rs1759407629
• gnomAD v3: 6-15627363-T-TAAAG
• gnomAD v4: 6-15627363-T-TAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627363_15627364insAAAG , CM000668.2:g.15627363_15627364insAAAG	GRCh38
NC_000006.11:g.15627594_15627595insAAAG , CM000668.1:g.15627594_15627595insAAAG	GRCh37
NC_000006.10:g.15735573_15735574insAAAG	NCBI36
NG_009309.1:g.40677_40678insCTTT , LRG_588:g.40677_40678insCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.334_335insCTTT MANE Select	ENSP00000341680.6:p.Glu112AlafsTer16
ENST00000338950.9:c.334_335insCTTT	ENSP00000344718.5:p.Glu112AlafsTer16
ENST00000344537.9:c.334_335insCTTT	ENSP00000341680.5:p.Glu112AlafsTer16
ENST00000355917.7:c.283_284insCTTT	ENSP00000348183.4:p.Glu95AlafsTer16
ENST00000506844.1:c.*332_*333insCTTT	ENSP00000424202.1:n.*332_*333insCTTT
ENST00000510395.5:c.*244_*245insCTTT	ENSP00000424685.1:n.*244_*245insCTTT
ENST00000511762.2:c.229_230insCTTT	ENSP00000427473.2:p.Glu77AlafsTer16
ENST00000513680.5:c.*332_*333insCTTT	ENSP00000424357.1:n.*332_*333insCTTT
ENST00000515875.5:c.283_284insCTTT	ENSP00000425495.1:p.Glu95AlafsTer16
ENST00000622898.4:c.229_230insCTTT	ENSP00000481997.1:p.Glu77AlafsTer16
NM_001271667.1:c.91_92insCTTT	NP_001258596.1:p.Glu31AlafsTer16
NM_001271668.1:c.283_284insCTTT	NP_001258597.1:p.Glu95AlafsTer16
NM_001271669.1:c.229_230insCTTT	NP_001258598.1:p.Glu77AlafsTer16
NM_032122.4:c.334_335insCTTT , LRG_588t1:c.334_335insCTTT	NP_115498.2:p.Glu112AlafsTer16
NM_183040.2:c.334_335insCTTT , LRG_588t2:c.334_335insCTTT	NP_898861.1:p.Glu112AlafsTer16
NR_036448.1:n.662_663insCTTT
XM_005249447.3:c.295_296insCTTT	XP_005249504.1:p.Glu99AlafsTer16
XM_011514936.1:c.244_245insCTTT	XP_011513238.1:p.Glu82AlafsTer16
XM_005249447.4:c.295_296insCTTT	XP_005249504.1:p.Glu99AlafsTer16
XM_011514936.3:c.244_245insCTTT	XP_011513238.1:p.Glu82AlafsTer16
NM_032122.5:c.334_335insCTTT MANE Select	NP_115498.2:p.Glu112AlafsTer16
NR_036448.2:n.632_633insCTTT
NM_001271667.2:c.91_92insCTTT	NP_001258596.1:p.Glu31AlafsTer16
NM_001271668.2:c.283_284insCTTT	NP_001258597.1:p.Glu95AlafsTer16
NM_001271669.2:c.229_230insCTTT	NP_001258598.1:p.Glu77AlafsTer16
NR_036448.3:n.632_633insCTTT