Canonical Allele Identifier: CA261950

Gene: LMNA

Linked Data

• ClinVar Variation Id: 48030
• ClinVar RCV Id: RCV000041307 ; RCV000492959 ; RCV000805993
• dbSNP Id: rs397517888
• gnomAD v4: 1-156136074-C-CATGG
• MyVariant Identifiers: chr1:g.156105867_156105870dupTGGA (hg19) ; chr1:g.156136076_156136079dupTGGA (hg38)
• PubMed: PMID:18585512

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136076_156136079dup , CM000663.2:g.156136076_156136079dup	GRCh38
NC_000001.10:g.156105867_156105870dup , CM000663.1:g.156105867_156105870dup	GRCh37
NC_000001.9:g.154372491_154372494dup	NCBI36
NG_008692.2:g.58504_58507dup , LRG_254:g.58504_58507dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.554_557dup	ENSP00000426535.3:p.Glu186AspfsTer?
ENST00000498722.3:n.344_347dup
ENST00000682650.1:c.1112_1115dup	ENSP00000506904.1:p.Glu372AspfsTer?
ENST00000683032.1:c.1112_1115dup	ENSP00000506771.1:p.Glu372AspfsTer?
ENST00000684195.1:c.1112_1115dup	ENSP00000508220.1:p.Glu372AspfsTer?
ENST00000361308.9:c.1112_1115dup	ENSP00000355292.6:p.Glu372AspfsTer?
ENST00000368300.9:c.1112_1115dup MANE Select	ENSP00000357283.4:p.Glu372AspfsTer?
ENST00000496738.6:n.1487_1490dup
ENST00000674518.1:c.*462_*465dup	ENSP00000502261.1:n.*462_*465dup
ENST00000674600.1:c.*911_*914dup	ENSP00000501666.1:n.*911_*914dup
ENST00000674720.1:c.1112_1115dup	ENSP00000502798.1:p.Glu372AspfsTer?
ENST00000675431.1:n.805_808dup
ENST00000675455.1:c.*912_*915dup	ENSP00000501795.1:n.*912_*915dup
ENST00000675667.1:c.1112_1115dup	ENSP00000501803.1:p.Glu372AspfsTer?
ENST00000675874.1:c.*583_*586dup	ENSP00000501851.1:n.*583_*586dup
ENST00000675881.1:c.*123_*126dup	ENSP00000501670.1:n.*123_*126dup
ENST00000675939.1:c.1112_1115dup	ENSP00000502256.1:p.Glu372AspfsTer?
ENST00000675989.1:n.1487_1490dup
ENST00000676208.1:c.*123_*126dup	ENSP00000502468.1:n.*123_*126dup
ENST00000676283.1:n.1487_1490dup
ENST00000676385.2:c.1112_1115dup	ENSP00000502091.1:p.Glu372AspfsTer?
ENST00000676434.1:c.*123_*126dup	ENSP00000501648.1:n.*123_*126dup
ENST00000677389.1:c.1112_1115dup MANE Plus Clinical	ENSP00000503633.1:p.Glu372AspfsTer?
ENST00000347559.6:c.1112_1115dup	ENSP00000292304.3:p.Glu372AspfsTer?
ENST00000361308.8:c.1112_1115dup	ENSP00000355292.5:p.Glu372AspfsTer?
ENST00000368297.5:c.869_872dup	ENSP00000357280.1:p.Glu291AspfsTer?
ENST00000368298.2:n.376_379dup
ENST00000368299.7:c.1112_1115dup	ENSP00000357282.3:p.Glu372AspfsTer?
ENST00000368300.8:c.1112_1115dup	ENSP00000357283.4:p.Glu372AspfsTer?
ENST00000368301.6:c.1112_1115dup	ENSP00000357284.2:p.Glu372AspfsTer?
ENST00000448611.6:c.776_779dup	ENSP00000395597.2:p.Glu260AspfsTer?
ENST00000473598.6:c.815_818dup	ENSP00000421821.1:p.Glu273AspfsTer?
ENST00000496738.5:n.497_500dup
ENST00000498722.2:n.344_347dup
NM_001257374.2:c.776_779dup	NP_001244303.1:p.Glu260AspfsTer?
NM_001282624.1:c.869_872dup	NP_001269553.1:p.Glu291AspfsTer?
NM_001282625.1:c.1112_1115dup	NP_001269554.1:p.Glu372AspfsTer?
NM_001282626.1:c.1112_1115dup	NP_001269555.1:p.Glu372AspfsTer?
NM_005572.3:c.1112_1115dup , LRG_254t1:c.1112_1115dup	NP_005563.1:p.Glu372AspfsTer?
NM_170707.3:c.1112_1115dup	NP_733821.1:p.Glu372AspfsTer?
NM_170708.3:c.1112_1115dup	NP_733822.1:p.Glu372AspfsTer?
XM_011509533.1:c.776_779dup	XP_011507835.1:p.Glu260AspfsTer?
XM_011509534.1:c.488_491dup	XP_011507836.1:p.Glu164AspfsTer?
XR_921781.1:n.1401_1404dup
XM_011509534.2:c.488_491dup	XP_011507836.1:p.Glu164AspfsTer?
XR_921781.2:n.1399_1402dup
NM_170707.4:c.1112_1115dup MANE Select	NP_733821.1:p.Glu372AspfsTer?
NM_001257374.3:c.776_779dup	NP_001244303.1:p.Glu260AspfsTer?
NM_001282626.2:c.1112_1115dup	NP_001269555.1:p.Glu372AspfsTer?
NM_001282624.2:c.869_872dup	NP_001269553.1:p.Glu291AspfsTer?
NM_001282625.2:c.1112_1115dup	NP_001269554.1:p.Glu372AspfsTer?
NM_005572.4:c.1112_1115dup MANE Plus Clinical	NP_005563.1:p.Glu372AspfsTer?
NM_170708.4:c.1112_1115dup	NP_733822.1:p.Glu372AspfsTer?