Canonical Allele Identifier: CA2573140670

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 1510776
• ClinVar RCV Id: RCV002014118
• dbSNP Id: rs2153937126

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152323412_152323561del , CM000668.2:g.152323412_152323561del	GRCh38
NC_000006.11:g.152644547_152644696del , CM000668.1:g.152644547_152644696del	GRCh37
NC_000006.10:g.152686240_152686389del	NCBI36
NG_012855.1:g.318842_318991del
NG_012855.2:g.318842_318991del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367255.10:c.15837_15917+69del
ENST00000423061.6:c.15624_15704+69del
ENST00000341594.9:c.14865_14945+69del
ENST00000367255.9:c.15837_15917+69del
ENST00000423061.5:c.15624_15704+69del
ENST00000448038.2:c.-82_-2+69del
ENST00000490135.6:n.3183_3263+69del
NM_033071.3:c.15624_15704+69del
NM_182961.3:c.15837_15917+69del
XM_006715407.1:c.15858_15938+69del
XM_006715408.1:c.15858_15938+69del
XM_006715409.1:c.15837_15917+69del
XM_006715410.1:c.15858_15938+69del
XM_006715411.1:c.15807_15887+69del
XM_006715412.1:c.15858_15938+69del
XM_006715413.1:c.15858_15938+69del
XM_006715414.1:c.15786_15866+69del
XM_006715415.1:c.15858_15938+69del
XM_006715416.1:c.15858_15938+69del
XM_006715417.1:c.15858_15938+69del
XM_006715420.1:c.15858_15938+69del
XM_006715421.1:c.15702_15782+69del
XM_006715422.1:c.15699_15779+69del
XM_006715423.1:c.15858_15938+69del
XM_006715424.1:c.15858_15938+69del
XM_006715425.1:c.15858_15938+69del
XM_011535641.1:c.15858_15938+69del
XM_011535642.1:c.15858_15938+69del
XM_011535643.1:c.15693_15773+69del
XM_011535644.1:c.14133_14213+69del
XM_011535645.1:c.13626_13706+69del
XM_011535646.1:c.15858_15938+69del
XM_011535647.1:c.9093_9173+69del
XM_006715408.2:c.15858_15938+69del
XM_006715410.2:c.15858_15938+69del
XM_006715412.2:c.15858_15938+69del
XM_006715413.2:c.15858_15938+69del
XM_006715415.2:c.15858_15938+69del
XM_006715416.2:c.15858_15938+69del
XM_006715417.2:c.15858_15938+69del
XM_006715420.2:c.15858_15938+69del
XM_006715421.2:c.15702_15782+69del
XM_006715423.2:c.15858_15938+69del
XM_006715424.2:c.15858_15938+69del
XM_006715425.2:c.15858_15938+69del
XM_011535641.2:c.15858_15938+69del
XM_011535642.2:c.15858_15938+69del
XM_011535645.2:c.13626_13706+69del
XM_017010608.1:c.15858_15938+69del
XM_017010609.1:c.15858_15938+69del
XM_017010610.1:c.15837_15917+69del
XM_017010611.2:c.15831_15911+69del
XM_017010612.1:c.15780_15860+69del
XM_017010613.1:c.15858_15938+69del
XM_017010614.1:c.15858_15938+69del
XM_017010615.1:c.15858_15938+69del
XM_017010616.1:c.15858_15938+69del
XM_017010617.1:c.15858_15938+69del
XM_017010618.1:c.15858_15938+69del
XM_017010619.1:c.14133_14213+69del
XR_001743287.1:n.16341_16421+69del
NM_182961.4:c.15837_15917+69del
NM_033071.5:c.15624_15704+69del