Canonical Allele Identifier: CA2580061151

Gene: LMNA

Linked Data

• ClinVar Variation Id: 2005753
• ClinVar RCV Id: RCV002825452

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156130665_156130685dup , CM000663.2:g.156130665_156130685dup	GRCh38
NC_000001.10:g.156100456_156100476dup , CM000663.1:g.156100456_156100476dup	GRCh37
NC_000001.9:g.154367080_154367100dup	NCBI36
NG_008692.2:g.53093_53113dup , LRG_254:g.53093_53113dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.-154_-134dup	ENSP00000426535.3:n.-154_-134dup
ENST00000682650.1:c.405_425dup	ENSP00000506904.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000683032.1:c.405_425dup	ENSP00000506771.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000684195.1:c.405_425dup	ENSP00000508220.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000361308.9:c.405_425dup	ENSP00000355292.6:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000368300.9:c.405_425dup MANE Select	ENSP00000357283.4:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000496738.6:n.780_800dup
ENST00000504687.6:c.-260_-240dup	ENSP00000426535.2:n.-260_-240dup
ENST00000674518.1:c.405_425dup	ENSP00000502261.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000674600.1:c.*204_*224dup	ENSP00000501666.1:n.*204_*224dup
ENST00000674720.1:c.405_425dup	ENSP00000502798.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000675431.1:n.98_118dup
ENST00000675455.1:c.*205_*225dup	ENSP00000501795.1:n.*205_*225dup
ENST00000675667.1:c.405_425dup	ENSP00000501803.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000675874.1:c.357-3738_357-3718dup	ENSP00000501851.1:n.357-3738_357-3718dup
ENST00000675881.1:c.405_425dup	ENSP00000501670.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000675939.1:c.405_425dup	ENSP00000502256.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000675989.1:n.780_800dup
ENST00000676208.1:c.405_425dup	ENSP00000502468.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000676283.1:n.780_800dup
ENST00000676385.2:c.405_425dup	ENSP00000502091.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000676434.1:c.405_425dup	ENSP00000501648.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000677389.1:c.405_425dup MANE Plus Clinical	ENSP00000503633.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000347559.6:c.405_425dup	ENSP00000292304.3:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000361308.8:c.405_425dup	ENSP00000355292.5:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000368297.5:c.162_182dup	ENSP00000357280.1:p.Leu60_Asn61insLysAspLeuGluAlaLeuLeu
ENST00000368299.7:c.405_425dup	ENSP00000357282.3:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000368300.8:c.405_425dup	ENSP00000357283.4:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000368301.6:c.405_425dup	ENSP00000357284.2:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
ENST00000448611.6:c.69_89dup	ENSP00000395597.2:p.Leu29_Asn30insLysAspLeuGluAlaLeuLeu
ENST00000469565.6:n.439_459dup
ENST00000470199.2:n.357-10_367dup
ENST00000473598.6:c.108_128dup	ENSP00000421821.1:p.Leu42_Asn43insLysAspLeuGluAlaLeuLeu
ENST00000502357.5:n.303_323dup
ENST00000502751.5:n.377_397dup
ENST00000504687.5:c.156_176dup	ENSP00000426535.1:p.Leu58_Asn59insLysAspLeuGluAlaLeuLeu
ENST00000515459.5:c.*79_*99dup	ENSP00000424518.1:n.*79_*99dup
NM_001257374.2:c.69_89dup	NP_001244303.1:p.Leu29_Asn30insLysAspLeuGluAlaLeuLeu
NM_001282624.1:c.162_182dup	NP_001269553.1:p.Leu60_Asn61insLysAspLeuGluAlaLeuLeu
NM_001282625.1:c.405_425dup	NP_001269554.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
NM_001282626.1:c.405_425dup	NP_001269555.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
NM_005572.3:c.405_425dup , LRG_254t1:c.405_425dup	NP_005563.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
NM_170707.3:c.405_425dup	NP_733821.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
NM_170708.3:c.405_425dup	NP_733822.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
XM_011509533.1:c.69_89dup	XP_011507835.1:p.Leu29_Asn30insLysAspLeuGluAlaLeuLeu
XM_011509534.1:c.-260_-240dup	XP_011507836.1:n.-260_-240dup
XR_921781.1:n.654_674dup
XM_011509534.2:c.-260_-240dup	XP_011507836.1:n.-260_-240dup
XR_921781.2:n.652_672dup
NM_170707.4:c.405_425dup MANE Select	NP_733821.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
NM_001257374.3:c.69_89dup	NP_001244303.1:p.Leu29_Asn30insLysAspLeuGluAlaLeuLeu
NM_001282626.2:c.405_425dup	NP_001269555.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
NM_001282624.2:c.162_182dup	NP_001269553.1:p.Leu60_Asn61insLysAspLeuGluAlaLeuLeu
NM_001282625.2:c.405_425dup	NP_001269554.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
NM_005572.4:c.405_425dup MANE Plus Clinical	NP_005563.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu
NM_170708.4:c.405_425dup	NP_733822.1:p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu