Canonical Allele Identifier: CA820866531

Gene: SYNE1

Linked Data

• dbSNP Id: rs1486322448
• MyVariant Identifiers: chr6:g.152461270_152461271del (hg19) ; chr6:g.152140135_152140136del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140135_152140136del , CM000668.2:g.152140135_152140136del	GRCh38
NC_000006.11:g.152461270_152461271del , CM000668.1:g.152461270_152461271del	GRCh37
NC_000006.10:g.152502963_152502964del	NCBI36
NG_012855.1:g.502264_502265del
NG_012855.2:g.502264_502265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1806_1807del MANE Plus Clinical	ENSP00000346701.4:p.Gln603GlyfsTer21
ENST00000367255.10:c.25272_25273del MANE Select	ENSP00000356224.5:p.Gln8425GlyfsTer21
ENST00000423061.6:c.25128_25129del	ENSP00000396024.1:p.Gln8377GlyfsTer21
ENST00000672154.1:c.674_675del
ENST00000672169.1:c.1007_1008del
ENST00000673173.1:c.916_917del
ENST00000673451.1:c.1044_1045del	ENSP00000500189.1:p.Gln349GlyfsTer21
ENST00000341594.9:c.24057_24058del	ENSP00000341887.6:p.Gln8020GlyfsTer21
ENST00000347037.9:n.2020_2021del
ENST00000354674.4:c.1806_1807del	ENSP00000346701.4:p.Gln603GlyfsTer21
ENST00000367251.7:c.4107_4108del	ENSP00000356220.3:p.Gln1370GlyfsTer21
ENST00000367255.9:c.25272_25273del	ENSP00000356224.5:p.Gln8425GlyfsTer21
ENST00000367256.9:n.8964_8965del
ENST00000367257.8:c.3210_3211del	ENSP00000356226.4:p.Gln1071GlyfsTer21
ENST00000409694.6:n.8856_8857del
ENST00000423061.5:c.25128_25129del	ENSP00000396024.1:p.Gln8377GlyfsTer21
ENST00000460912.6:n.1886_1887del
ENST00000478916.5:n.4294_4295del
ENST00000536990.5:n.2109_2110del
ENST00000539504.5:c.1737_1738del	ENSP00000441052.1:p.Gln580GlyfsTer21
NM_033071.3:c.25128_25129del	NP_149062.1:p.Gln8377GlyfsTer21
NM_182961.3:c.25272_25273del	NP_892006.3:p.Gln8425GlyfsTer21
XM_006715407.1:c.25377_25378del	XP_006715470.1:p.Gln8460GlyfsTer21
XM_006715408.1:c.25365_25366del	XP_006715471.1:p.Gln8456GlyfsTer21
XM_006715409.1:c.25356_25357del	XP_006715472.1:p.Gln8453GlyfsTer21
XM_006715410.1:c.25377_25378del	XP_006715473.1:p.Gln8460GlyfsTer21
XM_006715411.1:c.25326_25327del	XP_006715474.1:p.Gln8443GlyfsTer21
XM_006715412.1:c.25362_25363del	XP_006715475.1:p.Gln8455GlyfsTer21
XM_006715413.1:c.25308_25309del	XP_006715476.1:p.Gln8437GlyfsTer21
XM_006715414.1:c.25305_25306del	XP_006715477.1:p.Gln8436GlyfsTer21
XM_006715415.1:c.25308_25309del	XP_006715478.1:p.Gln8437GlyfsTer21
XM_006715416.1:c.25293_25294del	XP_006715479.1:p.Gln8432GlyfsTer21
XM_006715417.1:c.25236_25237del	XP_006715480.1:p.Gln8413GlyfsTer21
XM_006715420.1:c.25224_25225del	XP_006715483.1:p.Gln8409GlyfsTer21
XM_006715421.1:c.25221_25222del	XP_006715484.1:p.Gln8408GlyfsTer21
XM_006715422.1:c.25218_25219del	XP_006715485.1:p.Gln8407GlyfsTer21
XM_006715423.1:c.25377_25378del	XP_006715486.1:p.Gln8460GlyfsTer21
XM_006715424.1:c.25377_25378del	XP_006715487.1:p.Gln8460GlyfsTer21
XM_006715425.1:c.25308_25309del	XP_006715488.1:p.Gln8437GlyfsTer21
XM_011535641.1:c.25374_25375del	XP_011533943.1:p.Gln8459GlyfsTer21
XM_011535642.1:c.25362_25363del	XP_011533944.1:p.Gln8455GlyfsTer21
XM_011535643.1:c.25212_25213del	XP_011533945.1:p.Gln8405GlyfsTer21
XM_011535644.1:c.23652_23653del	XP_011533946.1:p.Gln7885GlyfsTer21
XM_011535645.1:c.23145_23146del	XP_011533947.1:p.Gln7716GlyfsTer21
XM_011535647.1:c.18612_18613del	XP_011533949.1:p.Gln6205GlyfsTer21
NM_001347701.1:c.1878_1879del	NP_001334630.1:p.Gln627GlyfsTer21
NM_001347702.1:c.1806_1807del	NP_001334631.1:p.Gln603GlyfsTer21
XM_006715408.2:c.25365_25366del	XP_006715471.1:p.Gln8456GlyfsTer21
XM_006715410.2:c.25377_25378del	XP_006715473.1:p.Gln8460GlyfsTer21
XM_006715412.2:c.25362_25363del	XP_006715475.1:p.Gln8455GlyfsTer21
XM_006715413.2:c.25308_25309del	XP_006715476.1:p.Gln8437GlyfsTer21
XM_006715415.2:c.25308_25309del	XP_006715478.1:p.Gln8437GlyfsTer21
XM_006715416.2:c.25293_25294del	XP_006715479.1:p.Gln8432GlyfsTer21
XM_006715417.2:c.25236_25237del	XP_006715480.1:p.Gln8413GlyfsTer21
XM_006715420.2:c.25224_25225del	XP_006715483.1:p.Gln8409GlyfsTer21
XM_006715421.2:c.25221_25222del	XP_006715484.1:p.Gln8408GlyfsTer21
XM_006715423.2:c.25377_25378del	XP_006715486.1:p.Gln8460GlyfsTer21
XM_006715424.2:c.25377_25378del	XP_006715487.1:p.Gln8460GlyfsTer21
XM_006715425.2:c.25308_25309del	XP_006715488.1:p.Gln8437GlyfsTer21
XM_011535641.2:c.25374_25375del	XP_011533943.1:p.Gln8459GlyfsTer21
XM_011535642.2:c.25362_25363del	XP_011533944.1:p.Gln8455GlyfsTer21
XM_011535645.2:c.23145_23146del	XP_011533947.1:p.Gln7716GlyfsTer21
XM_017010608.1:c.25377_25378del	XP_016866097.1:p.Gln8460GlyfsTer21
XM_017010609.1:c.25377_25378del	XP_016866098.1:p.Gln8460GlyfsTer21
XM_017010610.1:c.25356_25357del	XP_016866099.1:p.Gln8453GlyfsTer21
XM_017010611.2:c.25350_25351del	XP_016866100.1:p.Gln8451GlyfsTer21
XM_017010612.1:c.25299_25300del	XP_016866101.1:p.Gln8434GlyfsTer21
XM_017010613.1:c.25305_25306del	XP_016866102.1:p.Gln8436GlyfsTer21
XM_017010614.1:c.25221_25222del	XP_016866103.1:p.Gln8408GlyfsTer21
XM_017010615.1:c.25152_25153del	XP_016866104.1:p.Gln8385GlyfsTer21
XM_017010616.1:c.25308_25309del	XP_016866105.1:p.Gln8437GlyfsTer21
XM_017010617.1:c.25305_25306del	XP_016866106.1:p.Gln8436GlyfsTer21
XM_017010618.1:c.25293_25294del	XP_016866107.1:p.Gln8432GlyfsTer21
XM_017010619.1:c.23652_23653del	XP_016866108.1:p.Gln7885GlyfsTer21
NM_182961.4:c.25272_25273del MANE Select	NP_892006.3:p.Gln8425GlyfsTer21
NM_001347701.2:c.1878_1879del	NP_001334630.1:p.Gln627GlyfsTer21
NM_001347702.2:c.1806_1807del MANE Plus Clinical	NP_001334631.1:p.Gln603GlyfsTer21
NM_033071.5:c.25128_25129del	NP_149062.2:p.Gln8377GlyfsTer21