Canonical Allele Identifier: CA2578773611
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152213746del , CM000668.2:g.152213746del GRCh38
NC_000006.11:g.152534881del , CM000668.1:g.152534881del GRCh37
NC_000006.10:g.152576574del NCBI36
NG_012855.1:g.428658del
NG_012855.2:g.428658del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367255.10:c.22364del MANE Select ENSP00000356224.5:p.Leu7455CysfsTer18
ENST00000423061.6:c.22151del ENSP00000396024.1:p.Leu7384CysfsTer18
ENST00000341594.9:c.21149del ENSP00000341887.6:p.Leu7050CysfsTer18
ENST00000367251.7:c.1130del ENSP00000356220.3:p.Leu377CysfsTer18
ENST00000367255.9:c.22364del ENSP00000356224.5:p.Leu7455CysfsTer18
ENST00000367256.9:n.6056del
ENST00000367257.8:c.302del ENSP00000356226.4:p.Leu101CysfsTer18
ENST00000409694.6:n.5948del
ENST00000423061.5:c.22151del ENSP00000396024.1:p.Leu7384CysfsTer18
NM_033071.3:c.22151del NP_149062.1:p.Leu7384CysfsTer18
NM_182961.3:c.22364del NP_892006.3:p.Leu7455CysfsTer18
XM_006715407.1:c.22400del XP_006715470.1:p.Leu7467CysfsTer18
XM_006715408.1:c.22388del XP_006715471.1:p.Leu7463CysfsTer18
XM_006715409.1:c.22379del XP_006715472.1:p.Leu7460CysfsTer18
XM_006715410.1:c.22400del XP_006715473.1:p.Leu7467CysfsTer18
XM_006715411.1:c.22349del XP_006715474.1:p.Leu7450CysfsTer18
XM_006715412.1:c.22385del XP_006715475.1:p.Leu7462CysfsTer18
XM_006715413.1:c.22400del XP_006715476.1:p.Leu7467CysfsTer18
XM_006715414.1:c.22328del XP_006715477.1:p.Leu7443CysfsTer18
XM_006715415.1:c.22400del XP_006715478.1:p.Leu7467CysfsTer18
XM_006715416.1:c.22385del XP_006715479.1:p.Leu7462CysfsTer18
XM_006715417.1:c.22259del XP_006715480.1:p.Leu7420CysfsTer18
XM_006715420.1:c.22247del XP_006715483.1:p.Leu7416CysfsTer18
XM_006715421.1:c.22244del XP_006715484.1:p.Leu7415CysfsTer18
XM_006715422.1:c.22241del XP_006715485.1:p.Leu7414CysfsTer18
XM_006715423.1:c.22400del XP_006715486.1:p.Leu7467CysfsTer18
XM_006715424.1:c.22400del XP_006715487.1:p.Leu7467CysfsTer18
XM_006715425.1:c.22400del XP_006715488.1:p.Leu7467CysfsTer18
XM_011535641.1:c.22397del XP_011533943.1:p.Leu7466CysfsTer18
XM_011535642.1:c.22385del XP_011533944.1:p.Leu7462CysfsTer18
XM_011535643.1:c.22235del XP_011533945.1:p.Leu7412CysfsTer18
XM_011535644.1:c.20675del XP_011533946.1:p.Leu6892CysfsTer18
XM_011535645.1:c.20168del XP_011533947.1:p.Leu6723CysfsTer18
XM_011535647.1:c.15635del XP_011533949.1:p.Leu5212CysfsTer18
XM_006715408.2:c.22388del XP_006715471.1:p.Leu7463CysfsTer18
XM_006715410.2:c.22400del XP_006715473.1:p.Leu7467CysfsTer18
XM_006715412.2:c.22385del XP_006715475.1:p.Leu7462CysfsTer18
XM_006715413.2:c.22400del XP_006715476.1:p.Leu7467CysfsTer18
XM_006715415.2:c.22400del XP_006715478.1:p.Leu7467CysfsTer18
XM_006715416.2:c.22385del XP_006715479.1:p.Leu7462CysfsTer18
XM_006715417.2:c.22259del XP_006715480.1:p.Leu7420CysfsTer18
XM_006715420.2:c.22247del XP_006715483.1:p.Leu7416CysfsTer18
XM_006715421.2:c.22244del XP_006715484.1:p.Leu7415CysfsTer18
XM_006715423.2:c.22400del XP_006715486.1:p.Leu7467CysfsTer18
XM_006715424.2:c.22400del XP_006715487.1:p.Leu7467CysfsTer18
XM_006715425.2:c.22400del XP_006715488.1:p.Leu7467CysfsTer18
XM_011535641.2:c.22397del XP_011533943.1:p.Leu7466CysfsTer18
XM_011535642.2:c.22385del XP_011533944.1:p.Leu7462CysfsTer18
XM_011535645.2:c.20168del XP_011533947.1:p.Leu6723CysfsTer18
XM_017010608.1:c.22400del XP_016866097.1:p.Leu7467CysfsTer18
XM_017010609.1:c.22400del XP_016866098.1:p.Leu7467CysfsTer18
XM_017010610.1:c.22379del XP_016866099.1:p.Leu7460CysfsTer18
XM_017010611.2:c.22373del XP_016866100.1:p.Leu7458CysfsTer18
XM_017010612.1:c.22322del XP_016866101.1:p.Leu7441CysfsTer18
XM_017010613.1:c.22397del XP_016866102.1:p.Leu7466CysfsTer18
XM_017010614.1:c.22244del XP_016866103.1:p.Leu7415CysfsTer18
XM_017010615.1:c.22244del XP_016866104.1:p.Leu7415CysfsTer18
XM_017010616.1:c.22400del XP_016866105.1:p.Leu7467CysfsTer18
XM_017010617.1:c.22397del XP_016866106.1:p.Leu7466CysfsTer18
XM_017010618.1:c.22385del XP_016866107.1:p.Leu7462CysfsTer18
XM_017010619.1:c.20675del XP_016866108.1:p.Leu6892CysfsTer18
NM_182961.4:c.22364del MANE Select NP_892006.3:p.Leu7455CysfsTer18
NM_033071.5:c.22151del NP_149062.2:p.Leu7384CysfsTer18