Canonical Allele Identifier: CA2680812285

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152140260-CAGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140266_152140269del , CM000668.2:g.152140266_152140269del	GRCh38
NC_000006.11:g.152461401_152461404del , CM000668.1:g.152461401_152461404del	GRCh37
NC_000006.10:g.152503094_152503097del	NCBI36
NG_012855.1:g.502136_502139del
NG_012855.2:g.502136_502139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1781-103_1781-100del MANE Plus Clinical	ENSP00000346701.4:n.1781-103_1781-100del
ENST00000367255.10:c.25247-103_25247-100del MANE Select	ENSP00000356224.5:n.25247-103_25247-100del
ENST00000423061.6:c.25103-103_25103-100del	ENSP00000396024.1:n.25103-103_25103-100del
ENST00000672154.1:c.649-103_649-100del
ENST00000672169.1:c.982-103_982-100del
ENST00000673173.1:c.891-103_891-100del
ENST00000673451.1:c.1019-103_1019-100del	ENSP00000500189.1:n.1019-103_1019-100del
ENST00000341594.9:c.24032-103_24032-100del	ENSP00000341887.6:n.24032-103_24032-100del
ENST00000347037.9:n.1995-103_1995-100del
ENST00000354674.4:c.1781-103_1781-100del	ENSP00000346701.4:n.1781-103_1781-100del
ENST00000367251.7:c.4082-103_4082-100del	ENSP00000356220.3:n.4082-103_4082-100del
ENST00000367255.9:c.25247-103_25247-100del	ENSP00000356224.5:n.25247-103_25247-100del
ENST00000367256.9:n.8939-103_8939-100del
ENST00000367257.8:c.3185-103_3185-100del	ENSP00000356226.4:n.3185-103_3185-100del
ENST00000409694.6:n.8831-103_8831-100del
ENST00000423061.5:c.25103-103_25103-100del	ENSP00000396024.1:n.25103-103_25103-100del
ENST00000460912.6:n.1861-103_1861-100del
ENST00000478916.5:n.4269-103_4269-100del
ENST00000536990.5:n.2084-103_2084-100del
ENST00000539504.5:c.1712-103_1712-100del	ENSP00000441052.1:n.1712-103_1712-100del
NM_033071.3:c.25103-103_25103-100del	NP_149062.1:n.25103-103_25103-100del
NM_182961.3:c.25247-103_25247-100del	NP_892006.3:n.25247-103_25247-100del
XM_006715407.1:c.25352-103_25352-100del	XP_006715470.1:n.25352-103_25352-100del
XM_006715408.1:c.25340-103_25340-100del	XP_006715471.1:n.25340-103_25340-100del
XM_006715409.1:c.25331-103_25331-100del	XP_006715472.1:n.25331-103_25331-100del
XM_006715410.1:c.25352-103_25352-100del	XP_006715473.1:n.25352-103_25352-100del
XM_006715411.1:c.25301-103_25301-100del	XP_006715474.1:n.25301-103_25301-100del
XM_006715412.1:c.25337-103_25337-100del	XP_006715475.1:n.25337-103_25337-100del
XM_006715413.1:c.25283-103_25283-100del	XP_006715476.1:n.25283-103_25283-100del
XM_006715414.1:c.25280-103_25280-100del	XP_006715477.1:n.25280-103_25280-100del
XM_006715415.1:c.25283-103_25283-100del	XP_006715478.1:n.25283-103_25283-100del
XM_006715416.1:c.25268-103_25268-100del	XP_006715479.1:n.25268-103_25268-100del
XM_006715417.1:c.25211-103_25211-100del	XP_006715480.1:n.25211-103_25211-100del
XM_006715420.1:c.25199-103_25199-100del	XP_006715483.1:n.25199-103_25199-100del
XM_006715421.1:c.25196-103_25196-100del	XP_006715484.1:n.25196-103_25196-100del
XM_006715422.1:c.25193-103_25193-100del	XP_006715485.1:n.25193-103_25193-100del
XM_006715423.1:c.25352-103_25352-100del	XP_006715486.1:n.25352-103_25352-100del
XM_006715424.1:c.25352-103_25352-100del	XP_006715487.1:n.25352-103_25352-100del
XM_006715425.1:c.25283-103_25283-100del	XP_006715488.1:n.25283-103_25283-100del
XM_011535641.1:c.25349-103_25349-100del	XP_011533943.1:n.25349-103_25349-100del
XM_011535642.1:c.25337-103_25337-100del	XP_011533944.1:n.25337-103_25337-100del
XM_011535643.1:c.25187-103_25187-100del	XP_011533945.1:n.25187-103_25187-100del
XM_011535644.1:c.23627-103_23627-100del	XP_011533946.1:n.23627-103_23627-100del
XM_011535645.1:c.23120-103_23120-100del	XP_011533947.1:n.23120-103_23120-100del
XM_011535647.1:c.18587-103_18587-100del	XP_011533949.1:n.18587-103_18587-100del
NM_001347701.1:c.1853-103_1853-100del	NP_001334630.1:n.1853-103_1853-100del
NM_001347702.1:c.1781-103_1781-100del	NP_001334631.1:n.1781-103_1781-100del
XM_006715408.2:c.25340-103_25340-100del	XP_006715471.1:n.25340-103_25340-100del
XM_006715410.2:c.25352-103_25352-100del	XP_006715473.1:n.25352-103_25352-100del
XM_006715412.2:c.25337-103_25337-100del	XP_006715475.1:n.25337-103_25337-100del
XM_006715413.2:c.25283-103_25283-100del	XP_006715476.1:n.25283-103_25283-100del
XM_006715415.2:c.25283-103_25283-100del	XP_006715478.1:n.25283-103_25283-100del
XM_006715416.2:c.25268-103_25268-100del	XP_006715479.1:n.25268-103_25268-100del
XM_006715417.2:c.25211-103_25211-100del	XP_006715480.1:n.25211-103_25211-100del
XM_006715420.2:c.25199-103_25199-100del	XP_006715483.1:n.25199-103_25199-100del
XM_006715421.2:c.25196-103_25196-100del	XP_006715484.1:n.25196-103_25196-100del
XM_006715423.2:c.25352-103_25352-100del	XP_006715486.1:n.25352-103_25352-100del
XM_006715424.2:c.25352-103_25352-100del	XP_006715487.1:n.25352-103_25352-100del
XM_006715425.2:c.25283-103_25283-100del	XP_006715488.1:n.25283-103_25283-100del
XM_011535641.2:c.25349-103_25349-100del	XP_011533943.1:n.25349-103_25349-100del
XM_011535642.2:c.25337-103_25337-100del	XP_011533944.1:n.25337-103_25337-100del
XM_011535645.2:c.23120-103_23120-100del	XP_011533947.1:n.23120-103_23120-100del
XM_017010608.1:c.25352-103_25352-100del	XP_016866097.1:n.25352-103_25352-100del
XM_017010609.1:c.25352-103_25352-100del	XP_016866098.1:n.25352-103_25352-100del
XM_017010610.1:c.25331-103_25331-100del	XP_016866099.1:n.25331-103_25331-100del
XM_017010611.2:c.25325-103_25325-100del	XP_016866100.1:n.25325-103_25325-100del
XM_017010612.1:c.25274-103_25274-100del	XP_016866101.1:n.25274-103_25274-100del
XM_017010613.1:c.25280-103_25280-100del	XP_016866102.1:n.25280-103_25280-100del
XM_017010614.1:c.25196-103_25196-100del	XP_016866103.1:n.25196-103_25196-100del
XM_017010615.1:c.25127-103_25127-100del	XP_016866104.1:n.25127-103_25127-100del
XM_017010616.1:c.25283-103_25283-100del	XP_016866105.1:n.25283-103_25283-100del
XM_017010617.1:c.25280-103_25280-100del	XP_016866106.1:n.25280-103_25280-100del
XM_017010618.1:c.25268-103_25268-100del	XP_016866107.1:n.25268-103_25268-100del
XM_017010619.1:c.23627-103_23627-100del	XP_016866108.1:n.23627-103_23627-100del
NM_182961.4:c.25247-103_25247-100del MANE Select	NP_892006.3:n.25247-103_25247-100del
NM_001347701.2:c.1853-103_1853-100del	NP_001334630.1:n.1853-103_1853-100del
NM_001347702.2:c.1781-103_1781-100del MANE Plus Clinical	NP_001334631.1:n.1781-103_1781-100del
NM_033071.5:c.25103-103_25103-100del	NP_149062.2:n.25103-103_25103-100del