Canonical Allele Identifier: CA1612384606

Gene: DTNBP1

Linked Data

• dbSNP Id: rs1759410750

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627399_15627407del , CM000668.2:g.15627399_15627407del	GRCh38
NC_000006.11:g.15627630_15627638del , CM000668.1:g.15627630_15627638del	GRCh37
NC_000006.10:g.15735609_15735617del	NCBI36
NG_009309.1:g.40636_40644del , LRG_588:g.40636_40644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.293_301del MANE Select	ENSP00000341680.6:p.Gln98_Gln100del
ENST00000338950.9:c.293_301del	ENSP00000344718.5:p.Gln98_Gln100del
ENST00000344537.9:c.293_301del	ENSP00000341680.5:p.Gln98_Gln100del
ENST00000355917.7:c.242_250del	ENSP00000348183.4:p.Gln81_Gln83del
ENST00000506844.1:c.*291_*299del	ENSP00000424202.1:n.*291_*299del
ENST00000510395.5:c.*203_*211del	ENSP00000424685.1:n.*203_*211del
ENST00000511762.2:c.188_196del	ENSP00000427473.2:p.Gln63_Gln65del
ENST00000513680.5:c.*291_*299del	ENSP00000424357.1:n.*291_*299del
ENST00000515875.5:c.242_250del	ENSP00000425495.1:p.Gln81_Gln83del
ENST00000622898.4:c.188_196del	ENSP00000481997.1:p.Gln63_Gln65del
NM_001271667.1:c.50_58del	NP_001258596.1:p.Gln17_Gln19del
NM_001271668.1:c.242_250del	NP_001258597.1:p.Gln81_Gln83del
NM_001271669.1:c.188_196del	NP_001258598.1:p.Gln63_Gln65del
NM_032122.4:c.293_301del , LRG_588t1:c.293_301del	NP_115498.2:p.Gln98_Gln100del
NM_183040.2:c.293_301del , LRG_588t2:c.293_301del	NP_898861.1:p.Gln98_Gln100del
NR_036448.1:n.621_629del
XM_005249447.3:c.254_262del	XP_005249504.1:p.Gln85_Gln87del
XM_011514936.1:c.203_211del	XP_011513238.1:p.Gln68_Gln70del
XM_005249447.4:c.254_262del	XP_005249504.1:p.Gln85_Gln87del
XM_011514936.3:c.203_211del	XP_011513238.1:p.Gln68_Gln70del
NM_032122.5:c.293_301del MANE Select	NP_115498.2:p.Gln98_Gln100del
NR_036448.2:n.591_599del
NM_001271667.2:c.50_58del	NP_001258596.1:p.Gln17_Gln19del
NM_001271668.2:c.242_250del	NP_001258597.1:p.Gln81_Gln83del
NM_001271669.2:c.188_196del	NP_001258598.1:p.Gln63_Gln65del
NR_036448.3:n.591_599del