Canonical Allele Identifier: CA2680812923

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152139915-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152139917_152139918del , CM000668.2:g.152139917_152139918del	GRCh38
NC_000006.11:g.152461052_152461053del , CM000668.1:g.152461052_152461053del	GRCh37
NC_000006.10:g.152502745_152502746del	NCBI36
NG_012855.1:g.502483_502484del
NG_012855.2:g.502483_502484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1992+33_1992+34del MANE Plus Clinical	ENSP00000346701.4:n.1992+33_1992+34del
ENST00000367255.10:c.25458+33_25458+34del MANE Select	ENSP00000356224.5:n.25458+33_25458+34del
ENST00000423061.6:c.25314+33_25314+34del	ENSP00000396024.1:n.25314+33_25314+34del
ENST00000672154.1:c.860+33_860+34del
ENST00000672169.1:c.1193+33_1193+34del
ENST00000673173.1:c.1102+33_1102+34del
ENST00000673451.1:c.1230+33_1230+34del	ENSP00000500189.1:n.1230+33_1230+34del
ENST00000341594.9:c.24243+33_24243+34del	ENSP00000341887.6:n.24243+33_24243+34del
ENST00000347037.9:n.2206+33_2206+34del
ENST00000354674.4:c.1992+33_1992+34del	ENSP00000346701.4:n.1992+33_1992+34del
ENST00000367251.7:c.4293+33_4293+34del	ENSP00000356220.3:n.4293+33_4293+34del
ENST00000367255.9:c.25458+33_25458+34del	ENSP00000356224.5:n.25458+33_25458+34del
ENST00000367256.9:n.9150+33_9150+34del
ENST00000367257.8:c.3396+33_3396+34del	ENSP00000356226.4:n.3396+33_3396+34del
ENST00000409694.6:n.9042+33_9042+34del
ENST00000423061.5:c.25314+33_25314+34del	ENSP00000396024.1:n.25314+33_25314+34del
ENST00000460912.6:n.2072+33_2072+34del
ENST00000478916.5:n.4480+33_4480+34del
ENST00000536990.5:n.2295+33_2295+34del
ENST00000539504.5:c.1923+33_1923+34del	ENSP00000441052.1:n.1923+33_1923+34del
NM_033071.3:c.25314+33_25314+34del	NP_149062.1:n.25314+33_25314+34del
NM_182961.3:c.25458+33_25458+34del	NP_892006.3:n.25458+33_25458+34del
XM_006715407.1:c.25563+33_25563+34del	XP_006715470.1:n.25563+33_25563+34del
XM_006715408.1:c.25551+33_25551+34del	XP_006715471.1:n.25551+33_25551+34del
XM_006715409.1:c.25542+33_25542+34del	XP_006715472.1:n.25542+33_25542+34del
XM_006715410.1:c.25563+33_25563+34del	XP_006715473.1:n.25563+33_25563+34del
XM_006715411.1:c.25512+33_25512+34del	XP_006715474.1:n.25512+33_25512+34del
XM_006715412.1:c.25548+33_25548+34del	XP_006715475.1:n.25548+33_25548+34del
XM_006715413.1:c.25494+33_25494+34del	XP_006715476.1:n.25494+33_25494+34del
XM_006715414.1:c.25491+33_25491+34del	XP_006715477.1:n.25491+33_25491+34del
XM_006715415.1:c.25494+33_25494+34del	XP_006715478.1:n.25494+33_25494+34del
XM_006715416.1:c.25479+33_25479+34del	XP_006715479.1:n.25479+33_25479+34del
XM_006715417.1:c.25422+33_25422+34del	XP_006715480.1:n.25422+33_25422+34del
XM_006715420.1:c.25410+33_25410+34del	XP_006715483.1:n.25410+33_25410+34del
XM_006715421.1:c.25407+33_25407+34del	XP_006715484.1:n.25407+33_25407+34del
XM_006715422.1:c.25404+33_25404+34del	XP_006715485.1:n.25404+33_25404+34del
XM_006715423.1:c.25563+33_25563+34del	XP_006715486.1:n.25563+33_25563+34del
XM_006715424.1:c.25563+33_25563+34del	XP_006715487.1:n.25563+33_25563+34del
XM_006715425.1:c.25494+33_25494+34del	XP_006715488.1:n.25494+33_25494+34del
XM_011535641.1:c.25560+33_25560+34del	XP_011533943.1:n.25560+33_25560+34del
XM_011535642.1:c.25548+33_25548+34del	XP_011533944.1:n.25548+33_25548+34del
XM_011535643.1:c.25398+33_25398+34del	XP_011533945.1:n.25398+33_25398+34del
XM_011535644.1:c.23838+33_23838+34del	XP_011533946.1:n.23838+33_23838+34del
XM_011535645.1:c.23331+33_23331+34del	XP_011533947.1:n.23331+33_23331+34del
XM_011535647.1:c.18798+33_18798+34del	XP_011533949.1:n.18798+33_18798+34del
NM_001347701.1:c.2064+33_2064+34del	NP_001334630.1:n.2064+33_2064+34del
NM_001347702.1:c.1992+33_1992+34del	NP_001334631.1:n.1992+33_1992+34del
XM_006715408.2:c.25551+33_25551+34del	XP_006715471.1:n.25551+33_25551+34del
XM_006715410.2:c.25563+33_25563+34del	XP_006715473.1:n.25563+33_25563+34del
XM_006715412.2:c.25548+33_25548+34del	XP_006715475.1:n.25548+33_25548+34del
XM_006715413.2:c.25494+33_25494+34del	XP_006715476.1:n.25494+33_25494+34del
XM_006715415.2:c.25494+33_25494+34del	XP_006715478.1:n.25494+33_25494+34del
XM_006715416.2:c.25479+33_25479+34del	XP_006715479.1:n.25479+33_25479+34del
XM_006715417.2:c.25422+33_25422+34del	XP_006715480.1:n.25422+33_25422+34del
XM_006715420.2:c.25410+33_25410+34del	XP_006715483.1:n.25410+33_25410+34del
XM_006715421.2:c.25407+33_25407+34del	XP_006715484.1:n.25407+33_25407+34del
XM_006715423.2:c.25563+33_25563+34del	XP_006715486.1:n.25563+33_25563+34del
XM_006715424.2:c.25563+33_25563+34del	XP_006715487.1:n.25563+33_25563+34del
XM_006715425.2:c.25494+33_25494+34del	XP_006715488.1:n.25494+33_25494+34del
XM_011535641.2:c.25560+33_25560+34del	XP_011533943.1:n.25560+33_25560+34del
XM_011535642.2:c.25548+33_25548+34del	XP_011533944.1:n.25548+33_25548+34del
XM_011535645.2:c.23331+33_23331+34del	XP_011533947.1:n.23331+33_23331+34del
XM_017010608.1:c.25563+33_25563+34del	XP_016866097.1:n.25563+33_25563+34del
XM_017010609.1:c.25563+33_25563+34del	XP_016866098.1:n.25563+33_25563+34del
XM_017010610.1:c.25542+33_25542+34del	XP_016866099.1:n.25542+33_25542+34del
XM_017010611.2:c.25536+33_25536+34del	XP_016866100.1:n.25536+33_25536+34del
XM_017010612.1:c.25485+33_25485+34del	XP_016866101.1:n.25485+33_25485+34del
XM_017010613.1:c.25491+33_25491+34del	XP_016866102.1:n.25491+33_25491+34del
XM_017010614.1:c.25407+33_25407+34del	XP_016866103.1:n.25407+33_25407+34del
XM_017010615.1:c.25338+33_25338+34del	XP_016866104.1:n.25338+33_25338+34del
XM_017010616.1:c.25494+33_25494+34del	XP_016866105.1:n.25494+33_25494+34del
XM_017010617.1:c.25491+33_25491+34del	XP_016866106.1:n.25491+33_25491+34del
XM_017010618.1:c.25479+33_25479+34del	XP_016866107.1:n.25479+33_25479+34del
XM_017010619.1:c.23838+33_23838+34del	XP_016866108.1:n.23838+33_23838+34del
NM_182961.4:c.25458+33_25458+34del MANE Select	NP_892006.3:n.25458+33_25458+34del
NM_001347701.2:c.2064+33_2064+34del	NP_001334630.1:n.2064+33_2064+34del
NM_001347702.2:c.1992+33_1992+34del MANE Plus Clinical	NP_001334631.1:n.1992+33_1992+34del
NM_033071.5:c.25314+33_25314+34del	NP_149062.2:n.25314+33_25314+34del