Canonical Allele Identifier: CA277323
Gene: SYNE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212344
ClinVar RCV Id: RCV000194453
dbSNP Id: rs797046026
MyVariant Identifiers: chr6:g.152722425del (hg19) chr6:g.152401290del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152401290del , CM000668.2:g.152401290del GRCh38
NC_000006.11:g.152722425del , CM000668.1:g.152722425del GRCh37
NC_000006.10:g.152764118del NCBI36
NG_012855.1:g.241110del
NG_012855.2:g.241110del

Transcript Alleles

HGVS Amino-acid change
ENST00000367255.10:c.6877del MANE Select ENSP00000356224.5:p.Glu2293LysfsTer2
ENST00000423061.6:c.6898del ENSP00000396024.1:p.Glu2300LysfsTer2
ENST00000341594.9:c.6937del ENSP00000341887.6:p.Glu2313LysfsTer2
ENST00000367255.9:c.6877del ENSP00000356224.5:p.Glu2293LysfsTer2
ENST00000423061.5:c.6898del ENSP00000396024.1:p.Glu2300LysfsTer2
ENST00000461872.6:n.7095del
NM_033071.3:c.6898del NP_149062.1:p.Glu2300LysfsTer2
NM_182961.3:c.6877del NP_892006.3:p.Glu2293LysfsTer2
XM_006715407.1:c.6898del XP_006715470.1:p.Glu2300LysfsTer2
XM_006715408.1:c.6898del XP_006715471.1:p.Glu2300LysfsTer2
XM_006715409.1:c.6877del XP_006715472.1:p.Glu2293LysfsTer2
XM_006715410.1:c.6898del XP_006715473.1:p.Glu2300LysfsTer2
XM_006715411.1:c.6847del XP_006715474.1:p.Glu2283LysfsTer2
XM_006715412.1:c.6898del XP_006715475.1:p.Glu2300LysfsTer2
XM_006715413.1:c.6898del XP_006715476.1:p.Glu2300LysfsTer2
XM_006715414.1:c.6826del XP_006715477.1:p.Glu2276LysfsTer2
XM_006715415.1:c.6898del XP_006715478.1:p.Glu2300LysfsTer2
XM_006715416.1:c.6898del XP_006715479.1:p.Glu2300LysfsTer2
XM_006715417.1:c.6898del XP_006715480.1:p.Glu2300LysfsTer2
XM_006715420.1:c.6898del XP_006715483.1:p.Glu2300LysfsTer2
XM_006715421.1:c.6898del XP_006715484.1:p.Glu2300LysfsTer2
XM_006715422.1:c.6739del XP_006715485.1:p.Glu2247LysfsTer2
XM_006715423.1:c.6898del XP_006715486.1:p.Glu2300LysfsTer2
XM_006715424.1:c.6898del XP_006715487.1:p.Glu2300LysfsTer2
XM_006715425.1:c.6898del XP_006715488.1:p.Glu2300LysfsTer2
XM_011535641.1:c.6898del XP_011533943.1:p.Glu2300LysfsTer2
XM_011535642.1:c.6898del XP_011533944.1:p.Glu2300LysfsTer2
XM_011535643.1:c.6733del XP_011533945.1:p.Glu2245LysfsTer2
XM_011535644.1:c.5173del XP_011533946.1:p.Glu1725LysfsTer2
XM_011535645.1:c.4666del XP_011533947.1:p.Glu1556LysfsTer2
XM_011535646.1:c.6898del XP_011533948.1:p.Glu2300LysfsTer2
XM_011535647.1:c.133del XP_011533949.1:p.Glu45LysfsTer2
XM_006715408.2:c.6898del XP_006715471.1:p.Glu2300LysfsTer2
XM_006715410.2:c.6898del XP_006715473.1:p.Glu2300LysfsTer2
XM_006715412.2:c.6898del XP_006715475.1:p.Glu2300LysfsTer2
XM_006715413.2:c.6898del XP_006715476.1:p.Glu2300LysfsTer2
XM_006715415.2:c.6898del XP_006715478.1:p.Glu2300LysfsTer2
XM_006715416.2:c.6898del XP_006715479.1:p.Glu2300LysfsTer2
XM_006715417.2:c.6898del XP_006715480.1:p.Glu2300LysfsTer2
XM_006715420.2:c.6898del XP_006715483.1:p.Glu2300LysfsTer2
XM_006715421.2:c.6898del XP_006715484.1:p.Glu2300LysfsTer2
XM_006715423.2:c.6898del XP_006715486.1:p.Glu2300LysfsTer2
XM_006715424.2:c.6898del XP_006715487.1:p.Glu2300LysfsTer2
XM_006715425.2:c.6898del XP_006715488.1:p.Glu2300LysfsTer2
XM_011535641.2:c.6898del XP_011533943.1:p.Glu2300LysfsTer2
XM_011535642.2:c.6898del XP_011533944.1:p.Glu2300LysfsTer2
XM_011535645.2:c.4666del XP_011533947.1:p.Glu1556LysfsTer2
XM_017010608.1:c.6898del XP_016866097.1:p.Glu2300LysfsTer2
XM_017010609.1:c.6898del XP_016866098.1:p.Glu2300LysfsTer2
XM_017010610.1:c.6877del XP_016866099.1:p.Glu2293LysfsTer2
XM_017010611.2:c.6871del XP_016866100.1:p.Glu2291LysfsTer2
XM_017010612.1:c.6820del XP_016866101.1:p.Glu2274LysfsTer2
XM_017010613.1:c.6898del XP_016866102.1:p.Glu2300LysfsTer2
XM_017010614.1:c.6898del XP_016866103.1:p.Glu2300LysfsTer2
XM_017010615.1:c.6898del XP_016866104.1:p.Glu2300LysfsTer2
XM_017010616.1:c.6898del XP_016866105.1:p.Glu2300LysfsTer2
XM_017010617.1:c.6898del XP_016866106.1:p.Glu2300LysfsTer2
XM_017010618.1:c.6898del XP_016866107.1:p.Glu2300LysfsTer2
XM_017010619.1:c.5173del XP_016866108.1:p.Glu1725LysfsTer2
XR_001743287.1:n.7381del
NM_182961.4:c.6877del MANE Select NP_892006.3:p.Glu2293LysfsTer2
NM_033071.5:c.6898del NP_149062.2:p.Glu2300LysfsTer2
Search 100 bp 5'
Search 100 bp 3'