Canonical Allele Identifier: CA150197298

Gene: SYNE1

Linked Data

• dbSNP Id: rs749080513
• gnomAD v3: 6-152300578-CAG-C
• gnomAD v4: 6-152300578-CAG-C
• MyVariant Identifiers: chr6:g.152621714_152621715del (hg19) ; chr6:g.152300579_152300580del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152300582_152300583del , CM000668.2:g.152300582_152300583del	GRCh38
NC_000006.11:g.152621717_152621718del , CM000668.1:g.152621717_152621718del	GRCh37
NC_000006.10:g.152663410_152663411del	NCBI36
NG_012855.1:g.341820_341821del
NG_012855.2:g.341820_341821del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367255.10:c.17682+61_17682+62del MANE Select	ENSP00000356224.5:n.17682+61_17682+62del
ENST00000423061.6:c.17469+61_17469+62del	ENSP00000396024.1:n.17469+61_17469+62del
ENST00000341594.9:c.16467+61_16467+62del	ENSP00000341887.6:n.16467+61_16467+62del
ENST00000367255.9:c.17682+61_17682+62del	ENSP00000356224.5:n.17682+61_17682+62del
ENST00000367256.9:n.1374+61_1374+62del
ENST00000409694.6:n.1266+61_1266+62del
ENST00000423061.5:c.17469+61_17469+62del	ENSP00000396024.1:n.17469+61_17469+62del
ENST00000489156.1:n.401+1289_401+1290del
ENST00000537033.1:c.348+61_348+62del	ENSP00000443879.1:n.348+61_348+62del
ENST00000540663.5:c.207+1289_207+1290del	ENSP00000437411.1:n.207+1289_207+1290del
NM_033071.3:c.17469+61_17469+62del	NP_149062.1:n.17469+61_17469+62del
NM_182961.3:c.17682+61_17682+62del	NP_892006.3:n.17682+61_17682+62del
XM_006715407.1:c.17703+61_17703+62del	XP_006715470.1:n.17703+61_17703+62del
XM_006715408.1:c.17703+61_17703+62del	XP_006715471.1:n.17703+61_17703+62del
XM_006715409.1:c.17682+61_17682+62del	XP_006715472.1:n.17682+61_17682+62del
XM_006715410.1:c.17703+61_17703+62del	XP_006715473.1:n.17703+61_17703+62del
XM_006715411.1:c.17652+61_17652+62del	XP_006715474.1:n.17652+61_17652+62del
XM_006715412.1:c.17703+61_17703+62del	XP_006715475.1:n.17703+61_17703+62del
XM_006715413.1:c.17703+61_17703+62del	XP_006715476.1:n.17703+61_17703+62del
XM_006715414.1:c.17631+61_17631+62del	XP_006715477.1:n.17631+61_17631+62del
XM_006715415.1:c.17703+61_17703+62del	XP_006715478.1:n.17703+61_17703+62del
XM_006715416.1:c.17703+61_17703+62del	XP_006715479.1:n.17703+61_17703+62del
XM_006715417.1:c.17562+1289_17562+1290del	XP_006715480.1:n.17562+1289_17562+1290del...
XM_006715420.1:c.17562+1289_17562+1290del	XP_006715483.1:n.17562+1289_17562+1290del...
XM_006715421.1:c.17547+61_17547+62del	XP_006715484.1:n.17547+61_17547+62del
XM_006715422.1:c.17544+61_17544+62del	XP_006715485.1:n.17544+61_17544+62del
XM_006715423.1:c.17703+61_17703+62del	XP_006715486.1:n.17703+61_17703+62del
XM_006715424.1:c.17703+61_17703+62del	XP_006715487.1:n.17703+61_17703+62del
XM_006715425.1:c.17703+61_17703+62del	XP_006715488.1:n.17703+61_17703+62del
XM_011535641.1:c.17703+61_17703+62del	XP_011533943.1:n.17703+61_17703+62del
XM_011535642.1:c.17703+61_17703+62del	XP_011533944.1:n.17703+61_17703+62del
XM_011535643.1:c.17538+61_17538+62del	XP_011533945.1:n.17538+61_17538+62del
XM_011535644.1:c.15978+61_15978+62del	XP_011533946.1:n.15978+61_15978+62del
XM_011535645.1:c.15471+61_15471+62del	XP_011533947.1:n.15471+61_15471+62del
XM_011535646.1:c.17703+61_17703+62del	XP_011533948.1:n.17703+61_17703+62del
XM_011535647.1:c.10938+61_10938+62del	XP_011533949.1:n.10938+61_10938+62del
XM_006715408.2:c.17703+61_17703+62del	XP_006715471.1:n.17703+61_17703+62del
XM_006715410.2:c.17703+61_17703+62del	XP_006715473.1:n.17703+61_17703+62del
XM_006715412.2:c.17703+61_17703+62del	XP_006715475.1:n.17703+61_17703+62del
XM_006715413.2:c.17703+61_17703+62del	XP_006715476.1:n.17703+61_17703+62del
XM_006715415.2:c.17703+61_17703+62del	XP_006715478.1:n.17703+61_17703+62del
XM_006715416.2:c.17703+61_17703+62del	XP_006715479.1:n.17703+61_17703+62del
XM_006715417.2:c.17562+1289_17562+1290del	XP_006715480.1:n.17562+1289_17562+1290del...
XM_006715420.2:c.17562+1289_17562+1290del	XP_006715483.1:n.17562+1289_17562+1290del...
XM_006715421.2:c.17547+61_17547+62del	XP_006715484.1:n.17547+61_17547+62del
XM_006715423.2:c.17703+61_17703+62del	XP_006715486.1:n.17703+61_17703+62del
XM_006715424.2:c.17703+61_17703+62del	XP_006715487.1:n.17703+61_17703+62del
XM_006715425.2:c.17703+61_17703+62del	XP_006715488.1:n.17703+61_17703+62del
XM_011535641.2:c.17703+61_17703+62del	XP_011533943.1:n.17703+61_17703+62del
XM_011535642.2:c.17703+61_17703+62del	XP_011533944.1:n.17703+61_17703+62del
XM_011535645.2:c.15471+61_15471+62del	XP_011533947.1:n.15471+61_15471+62del
XM_017010608.1:c.17703+61_17703+62del	XP_016866097.1:n.17703+61_17703+62del
XM_017010609.1:c.17703+61_17703+62del	XP_016866098.1:n.17703+61_17703+62del
XM_017010610.1:c.17682+61_17682+62del	XP_016866099.1:n.17682+61_17682+62del
XM_017010611.2:c.17676+61_17676+62del	XP_016866100.1:n.17676+61_17676+62del
XM_017010612.1:c.17625+61_17625+62del	XP_016866101.1:n.17625+61_17625+62del
XM_017010613.1:c.17703+61_17703+62del	XP_016866102.1:n.17703+61_17703+62del
XM_017010614.1:c.17562+1289_17562+1290del	XP_016866103.1:n.17562+1289_17562+1290del...
XM_017010615.1:c.17562+1289_17562+1290del	XP_016866104.1:n.17562+1289_17562+1290del...
XM_017010616.1:c.17703+61_17703+62del	XP_016866105.1:n.17703+61_17703+62del
XM_017010617.1:c.17703+61_17703+62del	XP_016866106.1:n.17703+61_17703+62del
XM_017010618.1:c.17703+61_17703+62del	XP_016866107.1:n.17703+61_17703+62del
XM_017010619.1:c.15978+61_15978+62del	XP_016866108.1:n.15978+61_15978+62del
XR_001743287.1:n.18186+61_18186+62del
NM_182961.4:c.17682+61_17682+62del MANE Select	NP_892006.3:n.17682+61_17682+62del
NM_033071.5:c.17469+61_17469+62del	NP_149062.2:n.17469+61_17469+62del