Canonical Allele Identifier: CA2680812267

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152140231-A-ATAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140234_152140235insCCTAG , CM000668.2:g.152140234_152140235insCCTAG	GRCh38
NC_000006.11:g.152461369_152461370insCCTAG , CM000668.1:g.152461369_152461370insCCTAG	GRCh37
NC_000006.10:g.152503062_152503063insCCTAG	NCBI36
NG_012855.1:g.502168_502169insGGCTA
NG_012855.2:g.502168_502169insGGCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1781-71_1781-70insGGCTA MANE Plus Clinical	ENSP00000346701.4:n.1781-71_1781-70insGGCTA
ENST00000367255.10:c.25247-71_25247-70insGGCTA MANE Select	ENSP00000356224.5:n.25247-71_25247-70insGGCTA
ENST00000423061.6:c.25103-71_25103-70insGGCTA	ENSP00000396024.1:n.25103-71_25103-70insGGCTA
ENST00000672154.1:c.649-71_649-70insGGCTA
ENST00000672169.1:c.982-71_982-70insGGCTA
ENST00000673173.1:c.891-71_891-70insGGCTA
ENST00000673451.1:c.1019-71_1019-70insGGCTA	ENSP00000500189.1:n.1019-71_1019-70insGGCTA
ENST00000341594.9:c.24032-71_24032-70insGGCTA	ENSP00000341887.6:n.24032-71_24032-70insGGCTA
ENST00000347037.9:n.1995-71_1995-70insGGCTA
ENST00000354674.4:c.1781-71_1781-70insGGCTA	ENSP00000346701.4:n.1781-71_1781-70insGGCTA
ENST00000367251.7:c.4082-71_4082-70insGGCTA	ENSP00000356220.3:n.4082-71_4082-70insGGCTA
ENST00000367255.9:c.25247-71_25247-70insGGCTA	ENSP00000356224.5:n.25247-71_25247-70insGGCTA
ENST00000367256.9:n.8939-71_8939-70insGGCTA
ENST00000367257.8:c.3185-71_3185-70insGGCTA	ENSP00000356226.4:n.3185-71_3185-70insGGCTA
ENST00000409694.6:n.8831-71_8831-70insGGCTA
ENST00000423061.5:c.25103-71_25103-70insGGCTA	ENSP00000396024.1:n.25103-71_25103-70insGGCTA
ENST00000460912.6:n.1861-71_1861-70insGGCTA
ENST00000478916.5:n.4269-71_4269-70insGGCTA
ENST00000536990.5:n.2084-71_2084-70insGGCTA
ENST00000539504.5:c.1712-71_1712-70insGGCTA	ENSP00000441052.1:n.1712-71_1712-70insGGCTA
NM_033071.3:c.25103-71_25103-70insGGCTA	NP_149062.1:n.25103-71_25103-70insGGCTA
NM_182961.3:c.25247-71_25247-70insGGCTA	NP_892006.3:n.25247-71_25247-70insGGCTA
XM_006715407.1:c.25352-71_25352-70insGGCTA	XP_006715470.1:n.25352-71_25352-70insGGCTA
XM_006715408.1:c.25340-71_25340-70insGGCTA	XP_006715471.1:n.25340-71_25340-70insGGCTA
XM_006715409.1:c.25331-71_25331-70insGGCTA	XP_006715472.1:n.25331-71_25331-70insGGCTA
XM_006715410.1:c.25352-71_25352-70insGGCTA	XP_006715473.1:n.25352-71_25352-70insGGCTA
XM_006715411.1:c.25301-71_25301-70insGGCTA	XP_006715474.1:n.25301-71_25301-70insGGCTA
XM_006715412.1:c.25337-71_25337-70insGGCTA	XP_006715475.1:n.25337-71_25337-70insGGCTA
XM_006715413.1:c.25283-71_25283-70insGGCTA	XP_006715476.1:n.25283-71_25283-70insGGCTA
XM_006715414.1:c.25280-71_25280-70insGGCTA	XP_006715477.1:n.25280-71_25280-70insGGCTA
XM_006715415.1:c.25283-71_25283-70insGGCTA	XP_006715478.1:n.25283-71_25283-70insGGCTA
XM_006715416.1:c.25268-71_25268-70insGGCTA	XP_006715479.1:n.25268-71_25268-70insGGCTA
XM_006715417.1:c.25211-71_25211-70insGGCTA	XP_006715480.1:n.25211-71_25211-70insGGCTA
XM_006715420.1:c.25199-71_25199-70insGGCTA	XP_006715483.1:n.25199-71_25199-70insGGCTA
XM_006715421.1:c.25196-71_25196-70insGGCTA	XP_006715484.1:n.25196-71_25196-70insGGCTA
XM_006715422.1:c.25193-71_25193-70insGGCTA	XP_006715485.1:n.25193-71_25193-70insGGCTA
XM_006715423.1:c.25352-71_25352-70insGGCTA	XP_006715486.1:n.25352-71_25352-70insGGCTA
XM_006715424.1:c.25352-71_25352-70insGGCTA	XP_006715487.1:n.25352-71_25352-70insGGCTA
XM_006715425.1:c.25283-71_25283-70insGGCTA	XP_006715488.1:n.25283-71_25283-70insGGCTA
XM_011535641.1:c.25349-71_25349-70insGGCTA	XP_011533943.1:n.25349-71_25349-70insGGCTA
XM_011535642.1:c.25337-71_25337-70insGGCTA	XP_011533944.1:n.25337-71_25337-70insGGCTA
XM_011535643.1:c.25187-71_25187-70insGGCTA	XP_011533945.1:n.25187-71_25187-70insGGCTA
XM_011535644.1:c.23627-71_23627-70insGGCTA	XP_011533946.1:n.23627-71_23627-70insGGCTA
XM_011535645.1:c.23120-71_23120-70insGGCTA	XP_011533947.1:n.23120-71_23120-70insGGCTA
XM_011535647.1:c.18587-71_18587-70insGGCTA	XP_011533949.1:n.18587-71_18587-70insGGCTA
NM_001347701.1:c.1853-71_1853-70insGGCTA	NP_001334630.1:n.1853-71_1853-70insGGCTA
NM_001347702.1:c.1781-71_1781-70insGGCTA	NP_001334631.1:n.1781-71_1781-70insGGCTA
XM_006715408.2:c.25340-71_25340-70insGGCTA	XP_006715471.1:n.25340-71_25340-70insGGCTA
XM_006715410.2:c.25352-71_25352-70insGGCTA	XP_006715473.1:n.25352-71_25352-70insGGCTA
XM_006715412.2:c.25337-71_25337-70insGGCTA	XP_006715475.1:n.25337-71_25337-70insGGCTA
XM_006715413.2:c.25283-71_25283-70insGGCTA	XP_006715476.1:n.25283-71_25283-70insGGCTA
XM_006715415.2:c.25283-71_25283-70insGGCTA	XP_006715478.1:n.25283-71_25283-70insGGCTA
XM_006715416.2:c.25268-71_25268-70insGGCTA	XP_006715479.1:n.25268-71_25268-70insGGCTA
XM_006715417.2:c.25211-71_25211-70insGGCTA	XP_006715480.1:n.25211-71_25211-70insGGCTA
XM_006715420.2:c.25199-71_25199-70insGGCTA	XP_006715483.1:n.25199-71_25199-70insGGCTA
XM_006715421.2:c.25196-71_25196-70insGGCTA	XP_006715484.1:n.25196-71_25196-70insGGCTA
XM_006715423.2:c.25352-71_25352-70insGGCTA	XP_006715486.1:n.25352-71_25352-70insGGCTA
XM_006715424.2:c.25352-71_25352-70insGGCTA	XP_006715487.1:n.25352-71_25352-70insGGCTA
XM_006715425.2:c.25283-71_25283-70insGGCTA	XP_006715488.1:n.25283-71_25283-70insGGCTA
XM_011535641.2:c.25349-71_25349-70insGGCTA	XP_011533943.1:n.25349-71_25349-70insGGCTA
XM_011535642.2:c.25337-71_25337-70insGGCTA	XP_011533944.1:n.25337-71_25337-70insGGCTA
XM_011535645.2:c.23120-71_23120-70insGGCTA	XP_011533947.1:n.23120-71_23120-70insGGCTA
XM_017010608.1:c.25352-71_25352-70insGGCTA	XP_016866097.1:n.25352-71_25352-70insGGCTA
XM_017010609.1:c.25352-71_25352-70insGGCTA	XP_016866098.1:n.25352-71_25352-70insGGCTA
XM_017010610.1:c.25331-71_25331-70insGGCTA	XP_016866099.1:n.25331-71_25331-70insGGCTA
XM_017010611.2:c.25325-71_25325-70insGGCTA	XP_016866100.1:n.25325-71_25325-70insGGCTA
XM_017010612.1:c.25274-71_25274-70insGGCTA	XP_016866101.1:n.25274-71_25274-70insGGCTA
XM_017010613.1:c.25280-71_25280-70insGGCTA	XP_016866102.1:n.25280-71_25280-70insGGCTA
XM_017010614.1:c.25196-71_25196-70insGGCTA	XP_016866103.1:n.25196-71_25196-70insGGCTA
XM_017010615.1:c.25127-71_25127-70insGGCTA	XP_016866104.1:n.25127-71_25127-70insGGCTA
XM_017010616.1:c.25283-71_25283-70insGGCTA	XP_016866105.1:n.25283-71_25283-70insGGCTA
XM_017010617.1:c.25280-71_25280-70insGGCTA	XP_016866106.1:n.25280-71_25280-70insGGCTA
XM_017010618.1:c.25268-71_25268-70insGGCTA	XP_016866107.1:n.25268-71_25268-70insGGCTA
XM_017010619.1:c.23627-71_23627-70insGGCTA	XP_016866108.1:n.23627-71_23627-70insGGCTA
NM_182961.4:c.25247-71_25247-70insGGCTA MANE Select	NP_892006.3:n.25247-71_25247-70insGGCTA
NM_001347701.2:c.1853-71_1853-70insGGCTA	NP_001334630.1:n.1853-71_1853-70insGGCTA
NM_001347702.2:c.1781-71_1781-70insGGCTA MANE Plus Clinical	NP_001334631.1:n.1781-71_1781-70insGGCTA
NM_033071.5:c.25103-71_25103-70insGGCTA	NP_149062.2:n.25103-71_25103-70insGGCTA