Canonical Allele Identifier: CA1612384560
Gene: DTNBP1 HGNC NCBI

Linked Data

dbSNP Id: rs1759403280

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15627285_15627286insG , CM000668.2:g.15627285_15627286insG GRCh38
NC_000006.11:g.15627516_15627517insG , CM000668.1:g.15627516_15627517insG GRCh37
NC_000006.10:g.15735495_15735496insG NCBI36
NG_009309.1:g.40755_40756insC , LRG_588:g.40755_40756insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.355+57_355+58insC MANE Select ENSP00000341680.6:n.355+57_355+58insC
ENST00000338950.9:c.355+57_355+58insC ENSP00000344718.5:n.355+57_355+58insC
ENST00000344537.9:c.355+57_355+58insC ENSP00000341680.5:n.355+57_355+58insC
ENST00000355917.7:c.304+57_304+58insC ENSP00000348183.4:n.304+57_304+58insC
ENST00000506844.1:c.*353+57_*353+58insC ENSP00000424202.1:n.*353+57_*353+58insC
ENST00000510395.5:c.*265+57_*265+58insC ENSP00000424685.1:n.*265+57_*265+58insC
ENST00000511762.2:c.250+57_250+58insC ENSP00000427473.2:n.250+57_250+58insC
ENST00000513680.5:c.*353+57_*353+58insC ENSP00000424357.1:n.*353+57_*353+58insC
ENST00000515875.5:c.304+57_304+58insC ENSP00000425495.1:n.304+57_304+58insC
ENST00000622898.4:c.250+57_250+58insC ENSP00000481997.1:n.250+57_250+58insC
NM_001271667.1:c.112+57_112+58insC NP_001258596.1:n.112+57_112+58insC
NM_001271668.1:c.304+57_304+58insC NP_001258597.1:n.304+57_304+58insC
NM_001271669.1:c.250+57_250+58insC NP_001258598.1:n.250+57_250+58insC
NM_032122.4:c.355+57_355+58insC , LRG_588t1:c.355+57_355+58insC NP_115498.2:n.355+57_355+58insC
NM_183040.2:c.355+57_355+58insC , LRG_588t2:c.355+57_355+58insC NP_898861.1:n.355+57_355+58insC
NR_036448.1:n.683+57_683+58insC
XM_005249447.3:c.316+57_316+58insC XP_005249504.1:n.316+57_316+58insC
XM_011514936.1:c.265+57_265+58insC XP_011513238.1:n.265+57_265+58insC
XM_005249447.4:c.316+57_316+58insC XP_005249504.1:n.316+57_316+58insC
XM_011514936.3:c.265+57_265+58insC XP_011513238.1:n.265+57_265+58insC
NM_032122.5:c.355+57_355+58insC MANE Select NP_115498.2:n.355+57_355+58insC
NR_036448.2:n.653+57_653+58insC
NM_001271667.2:c.112+57_112+58insC NP_001258596.1:n.112+57_112+58insC
NM_001271668.2:c.304+57_304+58insC NP_001258597.1:n.304+57_304+58insC
NM_001271669.2:c.250+57_250+58insC NP_001258598.1:n.250+57_250+58insC
NR_036448.3:n.653+57_653+58insC