Canonical Allele Identifier: CA2516418583

Gene: DYNC1I1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96001851_96001852insAAA , CM000669.2:g.96001851_96001852insAAA	GRCh38
NC_000007.13:g.95631163_95631164insAAA , CM000669.1:g.95631163_95631164insAAA	GRCh37
NC_000007.12:g.95469099_95469100insAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000324972.10:c.1020+5778_1020+5779insAAA	ENSP00000320130.6:n.1020+5778_1020+5779in...
ENST00000359388.8:c.909+5778_909+5779insAAA	ENSP00000352348.4:n.909+5778_909+5779insA...
ENST00000437599.5:c.960+5778_960+5779insAAA	ENSP00000398118.1:n.960+5778_960+5779insA...
ENST00000447467.6:c.969+5778_969+5779insAAA MANE Select	ENSP00000392337.2:n.969+5778_969+5779insA...
ENST00000457059.2:c.969+5778_969+5779insAAA	ENSP00000412444.1:n.969+5778_969+5779insA...
ENST00000519371.1:n.627+5778_627+5779insAAA
ENST00000537881.5:c.735+5778_735+5779insAAA	ENSP00000438377.2:n.735+5778_735+5779insA...
ENST00000630942.2:c.909+5778_909+5779insAAA	ENSP00000486363.1:n.909+5778_909+5779insA...
NM_001135556.1:c.969+5778_969+5779insAAA	NP_001129028.1:n.969+5778_969+5779insAAA
NM_001135557.1:c.909+5778_909+5779insAAA	NP_001129029.1:n.909+5778_909+5779insAAA
NM_001278421.1:c.960+5778_960+5779insAAA	NP_001265350.1:n.960+5778_960+5779insAAA
NM_001278422.1:c.909+5778_909+5779insAAA	NP_001265351.1:n.909+5778_909+5779insAAA
NM_004411.4:c.1020+5778_1020+5779insAAA	NP_004402.1:n.1020+5778_1020+5779insAAA
XM_011515861.1:c.1020+5778_1020+5779insAAA	XP_011514163.1:n.1020+5778_1020+5779insAA...
XM_011515862.1:c.969+5778_969+5779insAAA	XP_011514164.1:n.969+5778_969+5779insAAA
XM_011515863.1:c.1020+5778_1020+5779insAAA	XP_011514165.1:n.1020+5778_1020+5779insAA...
XM_011515861.2:c.1020+5778_1020+5779insAAA	XP_011514163.1:n.1020+5778_1020+5779insAA...
XM_011515863.3:c.1020+5778_1020+5779insAAA	XP_011514165.1:n.1020+5778_1020+5779insAA...
XM_017011804.1:c.1020+5778_1020+5779insAAA	XP_016867293.1:n.1020+5778_1020+5779insAA...
XM_017011805.1:c.969+5778_969+5779insAAA	XP_016867294.1:n.969+5778_969+5779insAAA
XM_017011806.2:c.969+5778_969+5779insAAA	XP_016867295.1:n.969+5778_969+5779insAAA
XM_017011807.2:c.*594_*595insAAA	XP_016867296.1:n.*594_*595insAAA
NM_001135556.2:c.969+5778_969+5779insAAA MANE Select	NP_001129028.1:n.969+5778_969+5779insAAA
NM_001135557.2:c.909+5778_909+5779insAAA	NP_001129029.1:n.909+5778_909+5779insAAA
NM_001278421.2:c.960+5778_960+5779insAAA	NP_001265350.1:n.960+5778_960+5779insAAA
NM_001278422.2:c.909+5778_909+5779insAAA	NP_001265351.1:n.909+5778_909+5779insAAA
NM_004411.5:c.1020+5778_1020+5779insAAA	NP_004402.1:n.1020+5778_1020+5779insAAA