Canonical Allele Identifier: CA1086292696

Gene: DTNBP1

Linked Data

• dbSNP Id: rs1759407936
• gnomAD v3: 6-15627364-C-CGATTAAGTCTGCGAT
• gnomAD v4: 6-15627364-C-CGATTAAGTCTGCGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627364_15627365insGATTAAGTCTGCGAT , CM000668.2:g.15627364_15627365insGATTAAGTCTGCGAT	GRCh38
NC_000006.11:g.15627595_15627596insGATTAAGTCTGCGAT , CM000668.1:g.15627595_15627596insGATTAAGTCTGCGAT	GRCh37
NC_000006.10:g.15735574_15735575insGATTAAGTCTGCGAT	NCBI36
NG_009309.1:g.40676_40677insATCGCAGACTTAATC , LRG_588:g.40676_40677insATCGCAGACTTAATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.333_334insATCGCAGACTTAATC MANE Select	ENSP00000341680.6:p.Leu111_Glu112insIleAlaAspLeuIle
ENST00000338950.9:c.333_334insATCGCAGACTTAATC	ENSP00000344718.5:p.Leu111_Glu112insIleAlaAspLeuIle
ENST00000344537.9:c.333_334insATCGCAGACTTAATC	ENSP00000341680.5:p.Leu111_Glu112insIleAlaAspLeuIle
ENST00000355917.7:c.282_283insATCGCAGACTTAATC	ENSP00000348183.4:p.Leu94_Glu95insIleAlaAspLeuIle
ENST00000506844.1:c.*331_*332insATCGCAGACTTAATC	ENSP00000424202.1:n.*331_*332insATCGCAGACTTAATC
ENST00000510395.5:c.*243_*244insATCGCAGACTTAATC	ENSP00000424685.1:n.*243_*244insATCGCAGACTTAATC
ENST00000511762.2:c.228_229insATCGCAGACTTAATC	ENSP00000427473.2:p.Leu76_Glu77insIleAlaAspLeuIle
ENST00000513680.5:c.*331_*332insATCGCAGACTTAATC	ENSP00000424357.1:n.*331_*332insATCGCAGACTTAATC
ENST00000515875.5:c.282_283insATCGCAGACTTAATC	ENSP00000425495.1:p.Leu94_Glu95insIleAlaAspLeuIle
ENST00000622898.4:c.228_229insATCGCAGACTTAATC	ENSP00000481997.1:p.Leu76_Glu77insIleAlaAspLeuIle
NM_001271667.1:c.90_91insATCGCAGACTTAATC	NP_001258596.1:p.Leu30_Glu31insIleAlaAspLeuIle
NM_001271668.1:c.282_283insATCGCAGACTTAATC	NP_001258597.1:p.Leu94_Glu95insIleAlaAspLeuIle
NM_001271669.1:c.228_229insATCGCAGACTTAATC	NP_001258598.1:p.Leu76_Glu77insIleAlaAspLeuIle
NM_032122.4:c.333_334insATCGCAGACTTAATC , LRG_588t1:c.333_334insATCGCAGACTTAATC	NP_115498.2:p.Leu111_Glu112insIleAlaAspLeuIle
NM_183040.2:c.333_334insATCGCAGACTTAATC , LRG_588t2:c.333_334insATCGCAGACTTAATC	NP_898861.1:p.Leu111_Glu112insIleAlaAspLeuIle
NR_036448.1:n.661_662insATCGCAGACTTAATC
XM_005249447.3:c.294_295insATCGCAGACTTAATC	XP_005249504.1:p.Leu98_Glu99insIleAlaAspLeuIle
XM_011514936.1:c.243_244insATCGCAGACTTAATC	XP_011513238.1:p.Leu81_Glu82insIleAlaAspLeuIle
XM_005249447.4:c.294_295insATCGCAGACTTAATC	XP_005249504.1:p.Leu98_Glu99insIleAlaAspLeuIle
XM_011514936.3:c.243_244insATCGCAGACTTAATC	XP_011513238.1:p.Leu81_Glu82insIleAlaAspLeuIle
NM_032122.5:c.333_334insATCGCAGACTTAATC MANE Select	NP_115498.2:p.Leu111_Glu112insIleAlaAspLeuIle
NR_036448.2:n.631_632insATCGCAGACTTAATC
NM_001271667.2:c.90_91insATCGCAGACTTAATC	NP_001258596.1:p.Leu30_Glu31insIleAlaAspLeuIle
NM_001271668.2:c.282_283insATCGCAGACTTAATC	NP_001258597.1:p.Leu94_Glu95insIleAlaAspLeuIle
NM_001271669.2:c.228_229insATCGCAGACTTAATC	NP_001258598.1:p.Leu76_Glu77insIleAlaAspLeuIle
NR_036448.3:n.631_632insATCGCAGACTTAATC