Canonical Allele Identifier: CA645564553

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122650del , CM000668.2:g.152122650del GRCh38
NC_000006.11:g.152443785del , CM000668.1:g.152443785del GRCh37
NC_000006.10:g.152485478del NCBI36
NG_012855.1:g.519752del
NG_008493.2:g.470960del
NG_012855.2:g.519752del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2716del (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Leu906PhefsTer?
ENST00000367255.10:c.26182del (SYNE1) MANE Select ENSP00000356224.5:p.Leu8728PhefsTer?
ENST00000423061.6:c.26038del (SYNE1) ENSP00000396024.1:p.Leu8680PhefsTer?
ENST00000672154.1:c.1525del (SYNE1)
ENST00000672169.1:c.1900del (SYNE1)
ENST00000673173.1:c.1767del (SYNE1)
ENST00000673451.1:c.2032del (SYNE1) ENSP00000500189.1:n.2032del
ENST00000341594.9:c.24967del (SYNE1) ENSP00000341887.6:p.Leu8323PhefsTer?
ENST00000347037.9:n.2930del (SYNE1)
ENST00000354674.4:c.2716del (SYNE1) ENSP00000346701.4:p.Leu906PhefsTer?
ENST00000367251.7:c.4958del (SYNE1) ENSP00000356220.3:p.Pro1653LeufsTer?
ENST00000367255.9:c.26182del (SYNE1) ENSP00000356224.5:p.Leu8728PhefsTer?
ENST00000367256.9:n.9874del (SYNE1)
ENST00000367257.8:c.4061del (SYNE1) ENSP00000356226.4:p.Pro1354LeufsTer?
ENST00000409694.6:n.9766del (SYNE1)
ENST00000423061.5:c.26038del (SYNE1) ENSP00000396024.1:p.Leu8680PhefsTer?
ENST00000427531.6:c.851-2616del (ESR1) ENSP00000394721.2:n.851-2616del
ENST00000460912.6:n.2796del (SYNE1)
ENST00000478916.5:n.6819del (SYNE1)
ENST00000536990.5:n.2960del (SYNE1)
ENST00000539504.5:c.2647del (SYNE1) ENSP00000441052.1:p.Leu883PhefsTer?
NM_033071.3:c.26038del (SYNE1) NP_149062.1:p.Leu8680PhefsTer?
NM_182961.3:c.26182del (SYNE1) NP_892006.3:p.Leu8728PhefsTer?
XM_006715407.1:c.26329del (SYNE1) XP_006715470.1:p.Leu8777PhefsTer?
XM_006715408.1:c.26317del (SYNE1) XP_006715471.1:p.Leu8773PhefsTer?
XM_006715409.1:c.26308del (SYNE1) XP_006715472.1:p.Leu8770PhefsTer?
XM_006715410.1:c.26287del (SYNE1) XP_006715473.1:p.Leu8763PhefsTer?
XM_006715411.1:c.26278del (SYNE1) XP_006715474.1:p.Leu8760PhefsTer?
XM_006715412.1:c.26272del (SYNE1) XP_006715475.1:p.Leu8758PhefsTer?
XM_006715413.1:c.26260del (SYNE1) XP_006715476.1:p.Leu8754PhefsTer?
XM_006715414.1:c.26257del (SYNE1) XP_006715477.1:p.Leu8753PhefsTer?
XM_006715415.1:c.26218del (SYNE1) XP_006715478.1:p.Leu8740PhefsTer?
XM_006715416.1:c.26203del (SYNE1) XP_006715479.1:p.Leu8735PhefsTer?
XM_006715417.1:c.26188del (SYNE1) XP_006715480.1:p.Leu8730PhefsTer?
XM_006715420.1:c.26176del (SYNE1) XP_006715483.1:p.Leu8726PhefsTer?
XM_006715421.1:c.26173del (SYNE1) XP_006715484.1:p.Leu8725PhefsTer?
XM_006715422.1:c.26170del (SYNE1) XP_006715485.1:p.Leu8724PhefsTer?
XM_006715423.1:c.26270del (SYNE1) XP_006715486.1:p.Pro8757LeufsTer?
XM_006715424.1:c.26228del (SYNE1) XP_006715487.1:p.Pro8743LeufsTer?
XM_006715425.1:c.26159del (SYNE1) XP_006715488.1:p.Pro8720LeufsTer?
XM_011535641.1:c.26326del (SYNE1) XP_011533943.1:p.Leu8776PhefsTer?
XM_011535642.1:c.26314del (SYNE1) XP_011533944.1:p.Leu8772PhefsTer?
XM_011535643.1:c.26164del (SYNE1) XP_011533945.1:p.Leu8722PhefsTer?
XM_011535644.1:c.24604del (SYNE1) XP_011533946.1:p.Leu8202PhefsTer?
XM_011535645.1:c.24097del (SYNE1) XP_011533947.1:p.Leu8033PhefsTer?
XM_011535647.1:c.19564del (SYNE1) XP_011533949.1:p.Leu6522PhefsTer?
NM_001328100.1:c.851-2616del (ESR1) NP_001315029.1:n.851-2616del
NM_001347701.1:c.2729del (SYNE1) NP_001334630.1:p.Pro910LeufsTer?
NM_001347702.1:c.2716del (SYNE1) NP_001334631.1:p.Leu906PhefsTer?
XM_006715408.2:c.26317del (SYNE1) XP_006715471.1:p.Leu8773PhefsTer?
XM_006715410.2:c.26287del (SYNE1) XP_006715473.1:p.Leu8763PhefsTer?
XM_006715412.2:c.26272del (SYNE1) XP_006715475.1:p.Leu8758PhefsTer?
XM_006715413.2:c.26260del (SYNE1) XP_006715476.1:p.Leu8754PhefsTer?
XM_006715415.2:c.26218del (SYNE1) XP_006715478.1:p.Leu8740PhefsTer?
XM_006715416.2:c.26203del (SYNE1) XP_006715479.1:p.Leu8735PhefsTer?
XM_006715417.2:c.26188del (SYNE1) XP_006715480.1:p.Leu8730PhefsTer?
XM_006715420.2:c.26176del (SYNE1) XP_006715483.1:p.Leu8726PhefsTer?
XM_006715421.2:c.26173del (SYNE1) XP_006715484.1:p.Leu8725PhefsTer?
XM_006715423.2:c.26270del (SYNE1) XP_006715486.1:p.Pro8757LeufsTer?
XM_006715424.2:c.26228del (SYNE1) XP_006715487.1:p.Pro8743LeufsTer?
XM_006715425.2:c.26159del (SYNE1) XP_006715488.1:p.Pro8720LeufsTer?
XM_011535641.2:c.26326del (SYNE1) XP_011533943.1:p.Leu8776PhefsTer?
XM_011535642.2:c.26314del (SYNE1) XP_011533944.1:p.Leu8772PhefsTer?
XM_011535645.2:c.24097del (SYNE1) XP_011533947.1:p.Leu8033PhefsTer?
XM_017010608.1:c.26329del (SYNE1) XP_016866097.1:p.Leu8777PhefsTer?
XM_017010609.1:c.26329del (SYNE1) XP_016866098.1:p.Leu8777PhefsTer?
XM_017010610.1:c.26308del (SYNE1) XP_016866099.1:p.Leu8770PhefsTer?
XM_017010611.2:c.26302del (SYNE1) XP_016866100.1:p.Leu8768PhefsTer?
XM_017010612.1:c.26251del (SYNE1) XP_016866101.1:p.Leu8751PhefsTer?
XM_017010613.1:c.26215del (SYNE1) XP_016866102.1:p.Leu8739PhefsTer?
XM_017010614.1:c.26173del (SYNE1) XP_016866103.1:p.Leu8725PhefsTer?
XM_017010615.1:c.26062del (SYNE1) XP_016866104.1:p.Leu8688PhefsTer?
XM_017010616.1:c.26201del (SYNE1) XP_016866105.1:p.Pro8734LeufsTer?
XM_017010617.1:c.26156del (SYNE1) XP_016866106.1:p.Pro8719LeufsTer?
XM_017010618.1:c.26144del (SYNE1) XP_016866107.1:p.Pro8715LeufsTer?
XM_017010619.1:c.24604del (SYNE1) XP_016866108.1:p.Leu8202PhefsTer?
NM_182961.4:c.26182del (SYNE1) MANE Select NP_892006.3:p.Leu8728PhefsTer?
NM_001328100.2:c.851-2616del (ESR1) NP_001315029.1:n.851-2616del
NM_001347701.2:c.2729del (SYNE1) NP_001334630.1:p.Pro910LeufsTer?
NM_001347702.2:c.2716del (SYNE1) MANE Plus Clinical NP_001334631.1:p.Leu906PhefsTer?
NM_033071.5:c.26038del (SYNE1) NP_149062.2:p.Leu8680PhefsTer?