Canonical Allele Identifier: CA1139771276

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140135_152140137delinsT , CM000668.2:g.152140135_152140137delinsT	GRCh38
NC_000006.11:g.152461270_152461272delinsT , CM000668.1:g.152461270_152461272delinsT	GRCh37
NC_000006.10:g.152502963_152502965delinsT	NCBI36
NG_012855.1:g.502263_502265delinsA
NG_012855.2:g.502263_502265delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1805_1807delinsA MANE Plus Clinical	ENSP00000346701.4:p.Leu602GlnfsTer22
ENST00000367255.10:c.25271_25273delinsA MANE Select	ENSP00000356224.5:p.Leu8424GlnfsTer22
ENST00000423061.6:c.25127_25129delinsA	ENSP00000396024.1:p.Leu8376GlnfsTer22
ENST00000672154.1:c.673_675delinsA
ENST00000672169.1:c.1006_1008delinsA
ENST00000673173.1:c.915_917delinsA
ENST00000673451.1:c.1043_1045delinsA	ENSP00000500189.1:p.Leu348GlnfsTer22
ENST00000341594.9:c.24056_24058delinsA	ENSP00000341887.6:p.Leu8019GlnfsTer22
ENST00000347037.9:n.2019_2021delinsA
ENST00000354674.4:c.1805_1807delinsA	ENSP00000346701.4:p.Leu602GlnfsTer22
ENST00000367251.7:c.4106_4108delinsA	ENSP00000356220.3:p.Leu1369GlnfsTer22
ENST00000367255.9:c.25271_25273delinsA	ENSP00000356224.5:p.Leu8424GlnfsTer22
ENST00000367256.9:n.8963_8965delinsA
ENST00000367257.8:c.3209_3211delinsA	ENSP00000356226.4:p.Leu1070GlnfsTer22
ENST00000409694.6:n.8855_8857delinsA
ENST00000423061.5:c.25127_25129delinsA	ENSP00000396024.1:p.Leu8376GlnfsTer22
ENST00000460912.6:n.1885_1887delinsA
ENST00000478916.5:n.4293_4295delinsA
ENST00000536990.5:n.2108_2110delinsA
ENST00000539504.5:c.1736_1738delinsA	ENSP00000441052.1:p.Leu579GlnfsTer22
NM_033071.3:c.25127_25129delinsA	NP_149062.1:p.Leu8376GlnfsTer22
NM_182961.3:c.25271_25273delinsA	NP_892006.3:p.Leu8424GlnfsTer22
XM_006715407.1:c.25376_25378delinsA	XP_006715470.1:p.Leu8459GlnfsTer22
XM_006715408.1:c.25364_25366delinsA	XP_006715471.1:p.Leu8455GlnfsTer22
XM_006715409.1:c.25355_25357delinsA	XP_006715472.1:p.Leu8452GlnfsTer22
XM_006715410.1:c.25376_25378delinsA	XP_006715473.1:p.Leu8459GlnfsTer22
XM_006715411.1:c.25325_25327delinsA	XP_006715474.1:p.Leu8442GlnfsTer22
XM_006715412.1:c.25361_25363delinsA	XP_006715475.1:p.Leu8454GlnfsTer22
XM_006715413.1:c.25307_25309delinsA	XP_006715476.1:p.Leu8436GlnfsTer22
XM_006715414.1:c.25304_25306delinsA	XP_006715477.1:p.Leu8435GlnfsTer22
XM_006715415.1:c.25307_25309delinsA	XP_006715478.1:p.Leu8436GlnfsTer22
XM_006715416.1:c.25292_25294delinsA	XP_006715479.1:p.Leu8431GlnfsTer22
XM_006715417.1:c.25235_25237delinsA	XP_006715480.1:p.Leu8412GlnfsTer22
XM_006715420.1:c.25223_25225delinsA	XP_006715483.1:p.Leu8408GlnfsTer22
XM_006715421.1:c.25220_25222delinsA	XP_006715484.1:p.Leu8407GlnfsTer22
XM_006715422.1:c.25217_25219delinsA	XP_006715485.1:p.Leu8406GlnfsTer22
XM_006715423.1:c.25376_25378delinsA	XP_006715486.1:p.Leu8459GlnfsTer22
XM_006715424.1:c.25376_25378delinsA	XP_006715487.1:p.Leu8459GlnfsTer22
XM_006715425.1:c.25307_25309delinsA	XP_006715488.1:p.Leu8436GlnfsTer22
XM_011535641.1:c.25373_25375delinsA	XP_011533943.1:p.Leu8458GlnfsTer22
XM_011535642.1:c.25361_25363delinsA	XP_011533944.1:p.Leu8454GlnfsTer22
XM_011535643.1:c.25211_25213delinsA	XP_011533945.1:p.Leu8404GlnfsTer22
XM_011535644.1:c.23651_23653delinsA	XP_011533946.1:p.Leu7884GlnfsTer22
XM_011535645.1:c.23144_23146delinsA	XP_011533947.1:p.Leu7715GlnfsTer22
XM_011535647.1:c.18611_18613delinsA	XP_011533949.1:p.Leu6204GlnfsTer22
NM_001347701.1:c.1877_1879delinsA	NP_001334630.1:p.Leu626GlnfsTer22
NM_001347702.1:c.1805_1807delinsA	NP_001334631.1:p.Leu602GlnfsTer22
XM_006715408.2:c.25364_25366delinsA	XP_006715471.1:p.Leu8455GlnfsTer22
XM_006715410.2:c.25376_25378delinsA	XP_006715473.1:p.Leu8459GlnfsTer22
XM_006715412.2:c.25361_25363delinsA	XP_006715475.1:p.Leu8454GlnfsTer22
XM_006715413.2:c.25307_25309delinsA	XP_006715476.1:p.Leu8436GlnfsTer22
XM_006715415.2:c.25307_25309delinsA	XP_006715478.1:p.Leu8436GlnfsTer22
XM_006715416.2:c.25292_25294delinsA	XP_006715479.1:p.Leu8431GlnfsTer22
XM_006715417.2:c.25235_25237delinsA	XP_006715480.1:p.Leu8412GlnfsTer22
XM_006715420.2:c.25223_25225delinsA	XP_006715483.1:p.Leu8408GlnfsTer22
XM_006715421.2:c.25220_25222delinsA	XP_006715484.1:p.Leu8407GlnfsTer22
XM_006715423.2:c.25376_25378delinsA	XP_006715486.1:p.Leu8459GlnfsTer22
XM_006715424.2:c.25376_25378delinsA	XP_006715487.1:p.Leu8459GlnfsTer22
XM_006715425.2:c.25307_25309delinsA	XP_006715488.1:p.Leu8436GlnfsTer22
XM_011535641.2:c.25373_25375delinsA	XP_011533943.1:p.Leu8458GlnfsTer22
XM_011535642.2:c.25361_25363delinsA	XP_011533944.1:p.Leu8454GlnfsTer22
XM_011535645.2:c.23144_23146delinsA	XP_011533947.1:p.Leu7715GlnfsTer22
XM_017010608.1:c.25376_25378delinsA	XP_016866097.1:p.Leu8459GlnfsTer22
XM_017010609.1:c.25376_25378delinsA	XP_016866098.1:p.Leu8459GlnfsTer22
XM_017010610.1:c.25355_25357delinsA	XP_016866099.1:p.Leu8452GlnfsTer22
XM_017010611.2:c.25349_25351delinsA	XP_016866100.1:p.Leu8450GlnfsTer22
XM_017010612.1:c.25298_25300delinsA	XP_016866101.1:p.Leu8433GlnfsTer22
XM_017010613.1:c.25304_25306delinsA	XP_016866102.1:p.Leu8435GlnfsTer22
XM_017010614.1:c.25220_25222delinsA	XP_016866103.1:p.Leu8407GlnfsTer22
XM_017010615.1:c.25151_25153delinsA	XP_016866104.1:p.Leu8384GlnfsTer22
XM_017010616.1:c.25307_25309delinsA	XP_016866105.1:p.Leu8436GlnfsTer22
XM_017010617.1:c.25304_25306delinsA	XP_016866106.1:p.Leu8435GlnfsTer22
XM_017010618.1:c.25292_25294delinsA	XP_016866107.1:p.Leu8431GlnfsTer22
XM_017010619.1:c.23651_23653delinsA	XP_016866108.1:p.Leu7884GlnfsTer22
NM_182961.4:c.25271_25273delinsA MANE Select	NP_892006.3:p.Leu8424GlnfsTer22
NM_001347701.2:c.1877_1879delinsA	NP_001334630.1:p.Leu626GlnfsTer22
NM_001347702.2:c.1805_1807delinsA MANE Plus Clinical	NP_001334631.1:p.Leu602GlnfsTer22
NM_033071.5:c.25127_25129delinsA	NP_149062.2:p.Leu8376GlnfsTer22