Canonical Allele Identifier: CA2580075295

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 2436675
• ClinVar RCV Id: RCV003139011

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152330577_152330578delinsAA , CM000668.2:g.152330577_152330578delinsAA	GRCh38
NC_000006.11:g.152651712_152651713delinsAA , CM000668.1:g.152651712_152651713delinsAA	GRCh37
NC_000006.10:g.152693405_152693406delinsAA	NCBI36
NG_012855.1:g.311822_311823delinsTT
NG_012855.2:g.311822_311823delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000367255.10:c.14107_14108delinsTT MANE Select	ENSP00000356224.5:p.Asp4703Phe
ENST00000423061.6:c.13894_13895delinsTT	ENSP00000396024.1:p.Asp4632Phe
ENST00000341594.9:c.13297_13298delinsTT	ENSP00000341887.6:p.Asp4433Phe
ENST00000367255.9:c.14107_14108delinsTT	ENSP00000356224.5:p.Asp4703Phe
ENST00000423061.5:c.13894_13895delinsTT	ENSP00000396024.1:p.Asp4632Phe
ENST00000448038.2:c.-1812_-1811delinsTT	ENSP00000390975.2:n.-1812_-1811delinsTT
ENST00000490135.6:n.1453_1454delinsTT
NM_033071.3:c.13894_13895delinsTT	NP_149062.1:p.Asp4632Phe
NM_182961.3:c.14107_14108delinsTT	NP_892006.3:p.Asp4703Phe
XM_006715407.1:c.14128_14129delinsTT	XP_006715470.1:p.Asp4710Phe
XM_006715408.1:c.14128_14129delinsTT	XP_006715471.1:p.Asp4710Phe
XM_006715409.1:c.14107_14108delinsTT	XP_006715472.1:p.Asp4703Phe
XM_006715410.1:c.14128_14129delinsTT	XP_006715473.1:p.Asp4710Phe
XM_006715411.1:c.14077_14078delinsTT	XP_006715474.1:p.Asp4693Phe
XM_006715412.1:c.14128_14129delinsTT	XP_006715475.1:p.Asp4710Phe
XM_006715413.1:c.14128_14129delinsTT	XP_006715476.1:p.Asp4710Phe
XM_006715414.1:c.14056_14057delinsTT	XP_006715477.1:p.Asp4686Phe
XM_006715415.1:c.14128_14129delinsTT	XP_006715478.1:p.Asp4710Phe
XM_006715416.1:c.14128_14129delinsTT	XP_006715479.1:p.Asp4710Phe
XM_006715417.1:c.14128_14129delinsTT	XP_006715480.1:p.Asp4710Phe
XM_006715420.1:c.14128_14129delinsTT	XP_006715483.1:p.Asp4710Phe
XM_006715421.1:c.13972_13973delinsTT	XP_006715484.1:p.Asp4658Phe
XM_006715422.1:c.13969_13970delinsTT	XP_006715485.1:p.Asp4657Phe
XM_006715423.1:c.14128_14129delinsTT	XP_006715486.1:p.Asp4710Phe
XM_006715424.1:c.14128_14129delinsTT	XP_006715487.1:p.Asp4710Phe
XM_006715425.1:c.14128_14129delinsTT	XP_006715488.1:p.Asp4710Phe
XM_011535641.1:c.14128_14129delinsTT	XP_011533943.1:p.Asp4710Phe
XM_011535642.1:c.14128_14129delinsTT	XP_011533944.1:p.Asp4710Phe
XM_011535643.1:c.13963_13964delinsTT	XP_011533945.1:p.Asp4655Phe
XM_011535644.1:c.12403_12404delinsTT	XP_011533946.1:p.Asp4135Phe
XM_011535645.1:c.11896_11897delinsTT	XP_011533947.1:p.Asp3966Phe
XM_011535646.1:c.14128_14129delinsTT	XP_011533948.1:p.Asp4710Phe
XM_011535647.1:c.7363_7364delinsTT	XP_011533949.1:p.Asp2455Phe
XM_006715408.2:c.14128_14129delinsTT	XP_006715471.1:p.Asp4710Phe
XM_006715410.2:c.14128_14129delinsTT	XP_006715473.1:p.Asp4710Phe
XM_006715412.2:c.14128_14129delinsTT	XP_006715475.1:p.Asp4710Phe
XM_006715413.2:c.14128_14129delinsTT	XP_006715476.1:p.Asp4710Phe
XM_006715415.2:c.14128_14129delinsTT	XP_006715478.1:p.Asp4710Phe
XM_006715416.2:c.14128_14129delinsTT	XP_006715479.1:p.Asp4710Phe
XM_006715417.2:c.14128_14129delinsTT	XP_006715480.1:p.Asp4710Phe
XM_006715420.2:c.14128_14129delinsTT	XP_006715483.1:p.Asp4710Phe
XM_006715421.2:c.13972_13973delinsTT	XP_006715484.1:p.Asp4658Phe
XM_006715423.2:c.14128_14129delinsTT	XP_006715486.1:p.Asp4710Phe
XM_006715424.2:c.14128_14129delinsTT	XP_006715487.1:p.Asp4710Phe
XM_006715425.2:c.14128_14129delinsTT	XP_006715488.1:p.Asp4710Phe
XM_011535641.2:c.14128_14129delinsTT	XP_011533943.1:p.Asp4710Phe
XM_011535642.2:c.14128_14129delinsTT	XP_011533944.1:p.Asp4710Phe
XM_011535645.2:c.11896_11897delinsTT	XP_011533947.1:p.Asp3966Phe
XM_017010608.1:c.14128_14129delinsTT	XP_016866097.1:p.Asp4710Phe
XM_017010609.1:c.14128_14129delinsTT	XP_016866098.1:p.Asp4710Phe
XM_017010610.1:c.14107_14108delinsTT	XP_016866099.1:p.Asp4703Phe
XM_017010611.2:c.14101_14102delinsTT	XP_016866100.1:p.Asp4701Phe
XM_017010612.1:c.14050_14051delinsTT	XP_016866101.1:p.Asp4684Phe
XM_017010613.1:c.14128_14129delinsTT	XP_016866102.1:p.Asp4710Phe
XM_017010614.1:c.14128_14129delinsTT	XP_016866103.1:p.Asp4710Phe
XM_017010615.1:c.14128_14129delinsTT	XP_016866104.1:p.Asp4710Phe
XM_017010616.1:c.14128_14129delinsTT	XP_016866105.1:p.Asp4710Phe
XM_017010617.1:c.14128_14129delinsTT	XP_016866106.1:p.Asp4710Phe
XM_017010618.1:c.14128_14129delinsTT	XP_016866107.1:p.Asp4710Phe
XM_017010619.1:c.12403_12404delinsTT	XP_016866108.1:p.Asp4135Phe
XR_001743287.1:n.14611_14612delinsTT
NM_182961.4:c.14107_14108delinsTT MANE Select	NP_892006.3:p.Asp4703Phe
NM_033071.5:c.13894_13895delinsTT	NP_149062.2:p.Asp4632Phe