Canonical Allele Identifier: CA1095929567

Gene: SYNE1

Linked Data

• dbSNP Id: rs2060484354
• gnomAD v3: 6-152151882-CTG-C
• gnomAD v4: 6-152151882-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152151886_152151887del , CM000668.2:g.152151886_152151887del	GRCh38
NC_000006.11:g.152473021_152473022del , CM000668.1:g.152473021_152473022del	GRCh37
NC_000006.10:g.152514714_152514715del	NCBI36
NG_012855.1:g.490516_490517del
NG_012855.2:g.490516_490517del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.777+75_777+76del MANE Plus Clinical	ENSP00000346701.4:n.777+75_777+76del
ENST00000367255.10:c.24312+75_24312+76del MANE Select	ENSP00000356224.5:n.24312+75_24312+76del
ENST00000423061.6:c.24099+75_24099+76del	ENSP00000396024.1:n.24099+75_24099+76del
ENST00000672169.1:c.47+75_47+76del
ENST00000673173.1:c.226+75_226+76del
ENST00000673451.1:c.84+75_84+76del	ENSP00000500189.1:n.84+75_84+76del
ENST00000341594.9:c.23097+75_23097+76del	ENSP00000341887.6:n.23097+75_23097+76del
ENST00000347037.9:n.991+75_991+76del
ENST00000354674.4:c.777+75_777+76del	ENSP00000346701.4:n.777+75_777+76del
ENST00000367251.7:c.3078+75_3078+76del	ENSP00000356220.3:n.3078+75_3078+76del
ENST00000367255.9:c.24312+75_24312+76del	ENSP00000356224.5:n.24312+75_24312+76del
ENST00000367256.9:n.8004+75_8004+76del
ENST00000367257.8:c.2250+75_2250+76del	ENSP00000356226.4:n.2250+75_2250+76del
ENST00000409694.6:n.7896+75_7896+76del
ENST00000423061.5:c.24099+75_24099+76del	ENSP00000396024.1:n.24099+75_24099+76del
ENST00000460912.6:n.857+75_857+76del
ENST00000476519.1:n.374+75_374+76del
ENST00000536990.5:n.1149+75_1149+76del
ENST00000539504.5:c.777+75_777+76del	ENSP00000441052.1:n.777+75_777+76del
NM_033071.3:c.24099+75_24099+76del	NP_149062.1:n.24099+75_24099+76del
NM_182961.3:c.24312+75_24312+76del	NP_892006.3:n.24312+75_24312+76del
XM_006715407.1:c.24348+75_24348+76del	XP_006715470.1:n.24348+75_24348+76del
XM_006715408.1:c.24336+75_24336+76del	XP_006715471.1:n.24336+75_24336+76del
XM_006715409.1:c.24327+75_24327+76del	XP_006715472.1:n.24327+75_24327+76del
XM_006715410.1:c.24348+75_24348+76del	XP_006715473.1:n.24348+75_24348+76del
XM_006715411.1:c.24297+75_24297+76del	XP_006715474.1:n.24297+75_24297+76del
XM_006715412.1:c.24333+75_24333+76del	XP_006715475.1:n.24333+75_24333+76del
XM_006715413.1:c.24348+75_24348+76del	XP_006715476.1:n.24348+75_24348+76del
XM_006715414.1:c.24276+75_24276+76del	XP_006715477.1:n.24276+75_24276+76del
XM_006715415.1:c.24348+75_24348+76del	XP_006715478.1:n.24348+75_24348+76del
XM_006715416.1:c.24333+75_24333+76del	XP_006715479.1:n.24333+75_24333+76del
XM_006715417.1:c.24207+75_24207+76del	XP_006715480.1:n.24207+75_24207+76del
XM_006715420.1:c.24195+75_24195+76del	XP_006715483.1:n.24195+75_24195+76del
XM_006715421.1:c.24192+75_24192+76del	XP_006715484.1:n.24192+75_24192+76del
XM_006715422.1:c.24189+75_24189+76del	XP_006715485.1:n.24189+75_24189+76del
XM_006715423.1:c.24348+75_24348+76del	XP_006715486.1:n.24348+75_24348+76del
XM_006715424.1:c.24348+75_24348+76del	XP_006715487.1:n.24348+75_24348+76del
XM_006715425.1:c.24348+75_24348+76del	XP_006715488.1:n.24348+75_24348+76del
XM_011535641.1:c.24345+75_24345+76del	XP_011533943.1:n.24345+75_24345+76del
XM_011535642.1:c.24333+75_24333+76del	XP_011533944.1:n.24333+75_24333+76del
XM_011535643.1:c.24183+75_24183+76del	XP_011533945.1:n.24183+75_24183+76del
XM_011535644.1:c.22623+75_22623+76del	XP_011533946.1:n.22623+75_22623+76del
XM_011535645.1:c.22116+75_22116+76del	XP_011533947.1:n.22116+75_22116+76del
XM_011535647.1:c.17583+75_17583+76del	XP_011533949.1:n.17583+75_17583+76del
NM_001347701.1:c.918+75_918+76del	NP_001334630.1:n.918+75_918+76del
NM_001347702.1:c.777+75_777+76del	NP_001334631.1:n.777+75_777+76del
XM_006715408.2:c.24336+75_24336+76del	XP_006715471.1:n.24336+75_24336+76del
XM_006715410.2:c.24348+75_24348+76del	XP_006715473.1:n.24348+75_24348+76del
XM_006715412.2:c.24333+75_24333+76del	XP_006715475.1:n.24333+75_24333+76del
XM_006715413.2:c.24348+75_24348+76del	XP_006715476.1:n.24348+75_24348+76del
XM_006715415.2:c.24348+75_24348+76del	XP_006715478.1:n.24348+75_24348+76del
XM_006715416.2:c.24333+75_24333+76del	XP_006715479.1:n.24333+75_24333+76del
XM_006715417.2:c.24207+75_24207+76del	XP_006715480.1:n.24207+75_24207+76del
XM_006715420.2:c.24195+75_24195+76del	XP_006715483.1:n.24195+75_24195+76del
XM_006715421.2:c.24192+75_24192+76del	XP_006715484.1:n.24192+75_24192+76del
XM_006715423.2:c.24348+75_24348+76del	XP_006715486.1:n.24348+75_24348+76del
XM_006715424.2:c.24348+75_24348+76del	XP_006715487.1:n.24348+75_24348+76del
XM_006715425.2:c.24348+75_24348+76del	XP_006715488.1:n.24348+75_24348+76del
XM_011535641.2:c.24345+75_24345+76del	XP_011533943.1:n.24345+75_24345+76del
XM_011535642.2:c.24333+75_24333+76del	XP_011533944.1:n.24333+75_24333+76del
XM_011535645.2:c.22116+75_22116+76del	XP_011533947.1:n.22116+75_22116+76del
XM_017010608.1:c.24348+75_24348+76del	XP_016866097.1:n.24348+75_24348+76del
XM_017010609.1:c.24348+75_24348+76del	XP_016866098.1:n.24348+75_24348+76del
XM_017010610.1:c.24327+75_24327+76del	XP_016866099.1:n.24327+75_24327+76del
XM_017010611.2:c.24321+75_24321+76del	XP_016866100.1:n.24321+75_24321+76del
XM_017010612.1:c.24270+75_24270+76del	XP_016866101.1:n.24270+75_24270+76del
XM_017010613.1:c.24345+75_24345+76del	XP_016866102.1:n.24345+75_24345+76del
XM_017010614.1:c.24192+75_24192+76del	XP_016866103.1:n.24192+75_24192+76del
XM_017010615.1:c.24192+75_24192+76del	XP_016866104.1:n.24192+75_24192+76del
XM_017010616.1:c.24348+75_24348+76del	XP_016866105.1:n.24348+75_24348+76del
XM_017010617.1:c.24345+75_24345+76del	XP_016866106.1:n.24345+75_24345+76del
XM_017010618.1:c.24333+75_24333+76del	XP_016866107.1:n.24333+75_24333+76del
XM_017010619.1:c.22623+75_22623+76del	XP_016866108.1:n.22623+75_22623+76del
NM_182961.4:c.24312+75_24312+76del MANE Select	NP_892006.3:n.24312+75_24312+76del
NM_001347701.2:c.918+75_918+76del	NP_001334630.1:n.918+75_918+76del
NM_001347702.2:c.777+75_777+76del MANE Plus Clinical	NP_001334631.1:n.777+75_777+76del
NM_033071.5:c.24099+75_24099+76del	NP_149062.2:n.24099+75_24099+76del