Canonical Allele Identifier: CA4057702
Gene: SYNE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 355909
ClinVar RCV Id: RCV000347704 RCV000407655
dbSNP Id: rs756232172
ExAC: 6:152712715 G / GAAAAAA
gnomAD v2: 6-152712715-G-GAAAAAA
gnomAD v3: 6-152391580-G-GAAAAAA
gnomAD v4: 6-152391580-G-GAAAAAA
MyVariant Identifiers: chr6:g.152712716_152712721dupAAAAAA (hg19) chr6:g.152712729_152712730insAAAAAA (hg19) chr6:g.152712716_152712717insAAAAAA (hg19) chr6:g.152712715_152712716insAAAAAA (hg19) chr6:g.152391581_152391586dupAAAAAA (hg38) chr6:g.152391594_152391595insAAAAAA (hg38) chr6:g.152391581_152391582insAAAAAA (hg38) chr6:g.152391580_152391581insAAAAAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152391589_152391594dup , CM000668.2:g.152391589_152391594dup GRCh38
NC_000006.11:g.152712724_152712729dup , CM000668.1:g.152712724_152712729dup GRCh37
NC_000006.10:g.152754417_152754422dup NCBI36
NG_012855.1:g.250814_250819dup
NG_012855.2:g.250814_250819dup

Transcript Alleles

HGVS Amino-acid change
ENST00000367255.10:c.7713-18_7713-13dup MANE Select ENSP00000356224.5:n.7713-18_7713-13dup
ENST00000423061.6:c.7734-18_7734-13dup ENSP00000396024.1:n.7734-18_7734-13dup
ENST00000341594.9:c.7779-18_7779-13dup ENSP00000341887.6:n.7779-18_7779-13dup
ENST00000367255.9:c.7713-18_7713-13dup ENSP00000356224.5:n.7713-18_7713-13dup
ENST00000423061.5:c.7734-18_7734-13dup ENSP00000396024.1:n.7734-18_7734-13dup
ENST00000461872.6:n.7931-18_7931-13dup
NM_033071.3:c.7734-18_7734-13dup NP_149062.1:n.7734-18_7734-13dup
NM_182961.3:c.7713-18_7713-13dup NP_892006.3:n.7713-18_7713-13dup
XM_006715407.1:c.7734-18_7734-13dup XP_006715470.1:n.7734-18_7734-13dup
XM_006715408.1:c.7734-18_7734-13dup XP_006715471.1:n.7734-18_7734-13dup
XM_006715409.1:c.7713-18_7713-13dup XP_006715472.1:n.7713-18_7713-13dup
XM_006715410.1:c.7734-18_7734-13dup XP_006715473.1:n.7734-18_7734-13dup
XM_006715411.1:c.7683-18_7683-13dup XP_006715474.1:n.7683-18_7683-13dup
XM_006715412.1:c.7734-18_7734-13dup XP_006715475.1:n.7734-18_7734-13dup
XM_006715413.1:c.7734-18_7734-13dup XP_006715476.1:n.7734-18_7734-13dup
XM_006715414.1:c.7662-18_7662-13dup XP_006715477.1:n.7662-18_7662-13dup
XM_006715415.1:c.7734-18_7734-13dup XP_006715478.1:n.7734-18_7734-13dup
XM_006715416.1:c.7734-18_7734-13dup XP_006715479.1:n.7734-18_7734-13dup
XM_006715417.1:c.7734-18_7734-13dup XP_006715480.1:n.7734-18_7734-13dup
XM_006715420.1:c.7734-18_7734-13dup XP_006715483.1:n.7734-18_7734-13dup
XM_006715421.1:c.7734-18_7734-13dup XP_006715484.1:n.7734-18_7734-13dup
XM_006715422.1:c.7575-18_7575-13dup XP_006715485.1:n.7575-18_7575-13dup
XM_006715423.1:c.7734-18_7734-13dup XP_006715486.1:n.7734-18_7734-13dup
XM_006715424.1:c.7734-18_7734-13dup XP_006715487.1:n.7734-18_7734-13dup
XM_006715425.1:c.7734-18_7734-13dup XP_006715488.1:n.7734-18_7734-13dup
XM_011535641.1:c.7734-18_7734-13dup XP_011533943.1:n.7734-18_7734-13dup
XM_011535642.1:c.7734-18_7734-13dup XP_011533944.1:n.7734-18_7734-13dup
XM_011535643.1:c.7569-18_7569-13dup XP_011533945.1:n.7569-18_7569-13dup
XM_011535644.1:c.6009-18_6009-13dup XP_011533946.1:n.6009-18_6009-13dup
XM_011535645.1:c.5502-18_5502-13dup XP_011533947.1:n.5502-18_5502-13dup
XM_011535646.1:c.7734-18_7734-13dup XP_011533948.1:n.7734-18_7734-13dup
XM_011535647.1:c.969-18_969-13dup XP_011533949.1:n.969-18_969-13dup
XM_006715408.2:c.7734-18_7734-13dup XP_006715471.1:n.7734-18_7734-13dup
XM_006715410.2:c.7734-18_7734-13dup XP_006715473.1:n.7734-18_7734-13dup
XM_006715412.2:c.7734-18_7734-13dup XP_006715475.1:n.7734-18_7734-13dup
XM_006715413.2:c.7734-18_7734-13dup XP_006715476.1:n.7734-18_7734-13dup
XM_006715415.2:c.7734-18_7734-13dup XP_006715478.1:n.7734-18_7734-13dup
XM_006715416.2:c.7734-18_7734-13dup XP_006715479.1:n.7734-18_7734-13dup
XM_006715417.2:c.7734-18_7734-13dup XP_006715480.1:n.7734-18_7734-13dup
XM_006715420.2:c.7734-18_7734-13dup XP_006715483.1:n.7734-18_7734-13dup
XM_006715421.2:c.7734-18_7734-13dup XP_006715484.1:n.7734-18_7734-13dup
XM_006715423.2:c.7734-18_7734-13dup XP_006715486.1:n.7734-18_7734-13dup
XM_006715424.2:c.7734-18_7734-13dup XP_006715487.1:n.7734-18_7734-13dup
XM_006715425.2:c.7734-18_7734-13dup XP_006715488.1:n.7734-18_7734-13dup
XM_011535641.2:c.7734-18_7734-13dup XP_011533943.1:n.7734-18_7734-13dup
XM_011535642.2:c.7734-18_7734-13dup XP_011533944.1:n.7734-18_7734-13dup
XM_011535645.2:c.5502-18_5502-13dup XP_011533947.1:n.5502-18_5502-13dup
XM_017010608.1:c.7734-18_7734-13dup XP_016866097.1:n.7734-18_7734-13dup
XM_017010609.1:c.7734-18_7734-13dup XP_016866098.1:n.7734-18_7734-13dup
XM_017010610.1:c.7713-18_7713-13dup XP_016866099.1:n.7713-18_7713-13dup
XM_017010611.2:c.7707-18_7707-13dup XP_016866100.1:n.7707-18_7707-13dup
XM_017010612.1:c.7656-18_7656-13dup XP_016866101.1:n.7656-18_7656-13dup
XM_017010613.1:c.7734-18_7734-13dup XP_016866102.1:n.7734-18_7734-13dup
XM_017010614.1:c.7734-18_7734-13dup XP_016866103.1:n.7734-18_7734-13dup
XM_017010615.1:c.7734-18_7734-13dup XP_016866104.1:n.7734-18_7734-13dup
XM_017010616.1:c.7734-18_7734-13dup XP_016866105.1:n.7734-18_7734-13dup
XM_017010617.1:c.7734-18_7734-13dup XP_016866106.1:n.7734-18_7734-13dup
XM_017010618.1:c.7734-18_7734-13dup XP_016866107.1:n.7734-18_7734-13dup
XM_017010619.1:c.6009-18_6009-13dup XP_016866108.1:n.6009-18_6009-13dup
XR_001743287.1:n.8217-18_8217-13dup
NM_182961.4:c.7713-18_7713-13dup MANE Select NP_892006.3:n.7713-18_7713-13dup
NM_033071.5:c.7734-18_7734-13dup NP_149062.2:n.7734-18_7734-13dup
Search 100 bp 5'
Search 100 bp 3'