Canonical Allele Identifier: CA2677408396

Gene: DTNBP1

Linked Data

• gnomAD v4: 6-15637785-CAGCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15637786_15637791del , CM000668.2:g.15637786_15637791del	GRCh38
NC_000006.11:g.15638017_15638022del , CM000668.1:g.15638017_15638022del	GRCh37
NC_000006.10:g.15745996_15746001del	NCBI36
NG_009309.1:g.30250_30255del , LRG_588:g.30250_30255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.175_180del MANE Select	ENSP00000341680.6:p.Trp59_Ala60del
ENST00000338950.9:c.175_180del	ENSP00000344718.5:p.Trp59_Ala60del
ENST00000344537.9:c.175_180del	ENSP00000341680.5:p.Trp59_Ala60del
ENST00000355917.7:c.124_129del	ENSP00000348183.4:p.Trp42_Ala43del
ENST00000506844.1:c.*173_*178del	ENSP00000424202.1:n.*173_*178del
ENST00000510395.5:c.*85_*90del	ENSP00000424685.1:n.*85_*90del
ENST00000511762.2:c.70_75del	ENSP00000427473.2:p.Trp24_Ala25del
ENST00000513680.5:c.*173_*178del	ENSP00000424357.1:n.*173_*178del
ENST00000515875.5:c.124_129del	ENSP00000425495.1:p.Trp42_Ala43del
ENST00000622898.4:c.70_75del	ENSP00000481997.1:p.Trp24_Ala25del
NM_001271667.1:c.-69_-64del	NP_001258596.1:n.-69_-64del
NM_001271668.1:c.124_129del	NP_001258597.1:p.Trp42_Ala43del
NM_001271669.1:c.70_75del	NP_001258598.1:p.Trp24_Ala25del
NM_032122.4:c.175_180del , LRG_588t1:c.175_180del	NP_115498.2:p.Trp59_Ala60del
NM_183040.2:c.175_180del , LRG_588t2:c.175_180del	NP_898861.1:p.Trp59_Ala60del
NR_036448.1:n.503_508del
XM_005249447.3:c.136_141del	XP_005249504.1:p.Trp46_Ala47del
XM_011514936.1:c.85_90del	XP_011513238.1:p.Trp29_Ala30del
XM_005249447.4:c.136_141del	XP_005249504.1:p.Trp46_Ala47del
XM_011514936.3:c.85_90del	XP_011513238.1:p.Trp29_Ala30del
NM_032122.5:c.175_180del MANE Select	NP_115498.2:p.Trp59_Ala60del
NR_036448.2:n.473_478del
NM_001271667.2:c.-69_-64del	NP_001258596.1:n.-69_-64del
NM_001271668.2:c.124_129del	NP_001258597.1:p.Trp42_Ala43del
NM_001271669.2:c.70_75del	NP_001258598.1:p.Trp24_Ala25del
NR_036448.3:n.473_478del