Canonical Allele Identifier: CA2555509718
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152213718del , CM000668.2:g.152213718del GRCh38
NC_000006.11:g.152534853del , CM000668.1:g.152534853del GRCh37
NC_000006.10:g.152576546del NCBI36
NG_012855.1:g.428686del
NG_012855.2:g.428686del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367255.10:c.22392del MANE Select ENSP00000356224.5:p.Lys7464AsnfsTer9
ENST00000423061.6:c.22179del ENSP00000396024.1:p.Lys7393AsnfsTer9
ENST00000341594.9:c.21177del ENSP00000341887.6:p.Lys7059AsnfsTer9
ENST00000367251.7:c.1158del ENSP00000356220.3:p.Lys386AsnfsTer9
ENST00000367255.9:c.22392del ENSP00000356224.5:p.Lys7464AsnfsTer9
ENST00000367256.9:n.6084del
ENST00000367257.8:c.330del ENSP00000356226.4:p.Lys110AsnfsTer9
ENST00000409694.6:n.5976del
ENST00000423061.5:c.22179del ENSP00000396024.1:p.Lys7393AsnfsTer9
NM_033071.3:c.22179del NP_149062.1:p.Lys7393AsnfsTer9
NM_182961.3:c.22392del NP_892006.3:p.Lys7464AsnfsTer9
XM_006715407.1:c.22428del XP_006715470.1:p.Lys7476AsnfsTer9
XM_006715408.1:c.22416del XP_006715471.1:p.Lys7472AsnfsTer9
XM_006715409.1:c.22407del XP_006715472.1:p.Lys7469AsnfsTer9
XM_006715410.1:c.22428del XP_006715473.1:p.Lys7476AsnfsTer9
XM_006715411.1:c.22377del XP_006715474.1:p.Lys7459AsnfsTer9
XM_006715412.1:c.22413del XP_006715475.1:p.Lys7471AsnfsTer9
XM_006715413.1:c.22428del XP_006715476.1:p.Lys7476AsnfsTer9
XM_006715414.1:c.22356del XP_006715477.1:p.Lys7452AsnfsTer9
XM_006715415.1:c.22428del XP_006715478.1:p.Lys7476AsnfsTer9
XM_006715416.1:c.22413del XP_006715479.1:p.Lys7471AsnfsTer9
XM_006715417.1:c.22287del XP_006715480.1:p.Lys7429AsnfsTer9
XM_006715420.1:c.22275del XP_006715483.1:p.Lys7425AsnfsTer9
XM_006715421.1:c.22272del XP_006715484.1:p.Lys7424AsnfsTer9
XM_006715422.1:c.22269del XP_006715485.1:p.Lys7423AsnfsTer9
XM_006715423.1:c.22428del XP_006715486.1:p.Lys7476AsnfsTer9
XM_006715424.1:c.22428del XP_006715487.1:p.Lys7476AsnfsTer9
XM_006715425.1:c.22428del XP_006715488.1:p.Lys7476AsnfsTer9
XM_011535641.1:c.22425del XP_011533943.1:p.Lys7475AsnfsTer9
XM_011535642.1:c.22413del XP_011533944.1:p.Lys7471AsnfsTer9
XM_011535643.1:c.22263del XP_011533945.1:p.Lys7421AsnfsTer9
XM_011535644.1:c.20703del XP_011533946.1:p.Lys6901AsnfsTer9
XM_011535645.1:c.20196del XP_011533947.1:p.Lys6732AsnfsTer9
XM_011535647.1:c.15663del XP_011533949.1:p.Lys5221AsnfsTer9
XM_006715408.2:c.22416del XP_006715471.1:p.Lys7472AsnfsTer9
XM_006715410.2:c.22428del XP_006715473.1:p.Lys7476AsnfsTer9
XM_006715412.2:c.22413del XP_006715475.1:p.Lys7471AsnfsTer9
XM_006715413.2:c.22428del XP_006715476.1:p.Lys7476AsnfsTer9
XM_006715415.2:c.22428del XP_006715478.1:p.Lys7476AsnfsTer9
XM_006715416.2:c.22413del XP_006715479.1:p.Lys7471AsnfsTer9
XM_006715417.2:c.22287del XP_006715480.1:p.Lys7429AsnfsTer9
XM_006715420.2:c.22275del XP_006715483.1:p.Lys7425AsnfsTer9
XM_006715421.2:c.22272del XP_006715484.1:p.Lys7424AsnfsTer9
XM_006715423.2:c.22428del XP_006715486.1:p.Lys7476AsnfsTer9
XM_006715424.2:c.22428del XP_006715487.1:p.Lys7476AsnfsTer9
XM_006715425.2:c.22428del XP_006715488.1:p.Lys7476AsnfsTer9
XM_011535641.2:c.22425del XP_011533943.1:p.Lys7475AsnfsTer9
XM_011535642.2:c.22413del XP_011533944.1:p.Lys7471AsnfsTer9
XM_011535645.2:c.20196del XP_011533947.1:p.Lys6732AsnfsTer9
XM_017010608.1:c.22428del XP_016866097.1:p.Lys7476AsnfsTer9
XM_017010609.1:c.22428del XP_016866098.1:p.Lys7476AsnfsTer9
XM_017010610.1:c.22407del XP_016866099.1:p.Lys7469AsnfsTer9
XM_017010611.2:c.22401del XP_016866100.1:p.Lys7467AsnfsTer9
XM_017010612.1:c.22350del XP_016866101.1:p.Lys7450AsnfsTer9
XM_017010613.1:c.22425del XP_016866102.1:p.Lys7475AsnfsTer9
XM_017010614.1:c.22272del XP_016866103.1:p.Lys7424AsnfsTer9
XM_017010615.1:c.22272del XP_016866104.1:p.Lys7424AsnfsTer9
XM_017010616.1:c.22428del XP_016866105.1:p.Lys7476AsnfsTer9
XM_017010617.1:c.22425del XP_016866106.1:p.Lys7475AsnfsTer9
XM_017010618.1:c.22413del XP_016866107.1:p.Lys7471AsnfsTer9
XM_017010619.1:c.20703del XP_016866108.1:p.Lys6901AsnfsTer9
NM_182961.4:c.22392del MANE Select NP_892006.3:p.Lys7464AsnfsTer9
NM_033071.5:c.22179del NP_149062.2:p.Lys7393AsnfsTer9