Canonical Allele Identifier: CA658656965

Gene: LMNA

Linked Data

• ClinVar Variation Id: 451712
• ClinVar RCV Id: RCV000523321 ; RCV002404347 ; RCV001853667

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135968_156135969delinsCC , CM000663.2:g.156135968_156135969delinsCC	GRCh38
NC_000001.10:g.156105759_156105760delinsCC , CM000663.1:g.156105759_156105760delinsCC	GRCh37
NC_000001.9:g.154372383_154372384delinsCC	NCBI36
NG_008692.2:g.58396_58397delinsCC , LRG_254:g.58396_58397delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.446_447delinsCC	ENSP00000426535.3:p.Arg149Pro
ENST00000498722.3:n.236_237delinsCC
ENST00000682650.1:c.1004_1005delinsCC	ENSP00000506904.1:p.Arg335Pro
ENST00000683032.1:c.1004_1005delinsCC	ENSP00000506771.1:p.Arg335Pro
ENST00000684195.1:c.1004_1005delinsCC	ENSP00000508220.1:p.Arg335Pro
ENST00000361308.9:c.1004_1005delinsCC	ENSP00000355292.6:p.Arg335Pro
ENST00000368300.9:c.1004_1005delinsCC MANE Select	ENSP00000357283.4:p.Arg335Pro
ENST00000496738.6:n.1379_1380delinsCC
ENST00000674518.1:c.*354_*355delinsCC	ENSP00000502261.1:n.*354_*355delinsCC
ENST00000674600.1:c.*803_*804delinsCC	ENSP00000501666.1:n.*803_*804delinsCC
ENST00000674720.1:c.1004_1005delinsCC	ENSP00000502798.1:p.Arg335Pro
ENST00000675431.1:n.697_698delinsCC
ENST00000675455.1:c.*804_*805delinsCC	ENSP00000501795.1:n.*804_*805delinsCC
ENST00000675667.1:c.1004_1005delinsCC	ENSP00000501803.1:p.Arg335Pro
ENST00000675874.1:c.*475_*476delinsCC	ENSP00000501851.1:n.*475_*476delinsCC
ENST00000675881.1:c.*15_*16delinsCC	ENSP00000501670.1:n.*15_*16delinsCC
ENST00000675939.1:c.1004_1005delinsCC	ENSP00000502256.1:p.Arg335Pro
ENST00000675989.1:n.1379_1380delinsCC
ENST00000676208.1:c.*15_*16delinsCC	ENSP00000502468.1:n.*15_*16delinsCC
ENST00000676283.1:n.1379_1380delinsCC
ENST00000676385.2:c.1004_1005delinsCC	ENSP00000502091.1:p.Arg335Pro
ENST00000676434.1:c.*15_*16delinsCC	ENSP00000501648.1:n.*15_*16delinsCC
ENST00000677389.1:c.1004_1005delinsCC MANE Plus Clinical	ENSP00000503633.1:p.Arg335Pro
ENST00000347559.6:c.1004_1005delinsCC	ENSP00000292304.3:p.Arg335Pro
ENST00000361308.8:c.1004_1005delinsCC	ENSP00000355292.5:p.Arg335Pro
ENST00000368297.5:c.761_762delinsCC	ENSP00000357280.1:p.Arg254Pro
ENST00000368298.2:n.268_269delinsCC
ENST00000368299.7:c.1004_1005delinsCC	ENSP00000357282.3:p.Arg335Pro
ENST00000368300.8:c.1004_1005delinsCC	ENSP00000357283.4:p.Arg335Pro
ENST00000368301.6:c.1004_1005delinsCC	ENSP00000357284.2:p.Arg335Pro
ENST00000448611.6:c.668_669delinsCC	ENSP00000395597.2:p.Arg223Pro
ENST00000473598.6:c.707_708delinsCC	ENSP00000421821.1:p.Arg236Pro
ENST00000496738.5:n.389_390delinsCC
ENST00000498722.2:n.236_237delinsCC
NM_001257374.2:c.668_669delinsCC	NP_001244303.1:p.Arg223Pro
NM_001282624.1:c.761_762delinsCC	NP_001269553.1:p.Arg254Pro
NM_001282625.1:c.1004_1005delinsCC	NP_001269554.1:p.Arg335Pro
NM_001282626.1:c.1004_1005delinsCC	NP_001269555.1:p.Arg335Pro
NM_005572.3:c.1004_1005delinsCC , LRG_254t1:c.1004_1005delinsCC	NP_005563.1:p.Arg335Pro
NM_170707.3:c.1004_1005delinsCC	NP_733821.1:p.Arg335Pro
NM_170708.3:c.1004_1005delinsCC	NP_733822.1:p.Arg335Pro
XM_011509533.1:c.668_669delinsCC	XP_011507835.1:p.Arg223Pro
XM_011509534.1:c.380_381delinsCC	XP_011507836.1:p.Arg127Pro
XR_921781.1:n.1293_1294delinsCC
XM_011509534.2:c.380_381delinsCC	XP_011507836.1:p.Arg127Pro
XR_921781.2:n.1291_1292delinsCC
NM_170707.4:c.1004_1005delinsCC MANE Select	NP_733821.1:p.Arg335Pro
NM_001257374.3:c.668_669delinsCC	NP_001244303.1:p.Arg223Pro
NM_001282626.2:c.1004_1005delinsCC	NP_001269555.1:p.Arg335Pro
NM_001282624.2:c.761_762delinsCC	NP_001269553.1:p.Arg254Pro
NM_001282625.2:c.1004_1005delinsCC	NP_001269554.1:p.Arg335Pro
NM_005572.4:c.1004_1005delinsCC MANE Plus Clinical	NP_005563.1:p.Arg335Pro
NM_170708.4:c.1004_1005delinsCC	NP_733822.1:p.Arg335Pro