Canonical Allele Identifier: CA053418

Gene: LMNA

Linked Data

• dbSNP Id: rs751431601
• ExAC: 1:156084752 C / CAGG
• gnomAD v2: 1-156084752-C-CAGG
• gnomAD v3: 1-156114961-C-CAGG
• gnomAD v4: 1-156114961-C-CAGG
• MyVariant Identifiers: chr1:g.156084752_156084753insAGG (hg19) ; chr1:g.156114961_156114962insAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156114962_156114964dup , CM000663.2:g.156114962_156114964dup	GRCh38
NC_000001.10:g.156084753_156084755dup , CM000663.1:g.156084753_156084755dup	GRCh37
NC_000001.9:g.154351377_154351379dup	NCBI36
NG_008692.2:g.37390_37392dup , LRG_254:g.37390_37392dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682650.1:c.44_46dup	ENSP00000506904.1:p.Gln15_Ala16insGlu
ENST00000683032.1:c.44_46dup	ENSP00000506771.1:p.Gln15_Ala16insGlu
ENST00000684195.1:c.44_46dup	ENSP00000508220.1:p.Gln15_Ala16insGlu
ENST00000361308.9:c.44_46dup	ENSP00000355292.6:p.Gln15_Ala16insGlu
ENST00000368300.9:c.44_46dup MANE Select	ENSP00000357283.4:p.Gln15_Ala16insGlu
ENST00000496738.6:n.419_421dup
ENST00000674518.1:c.44_46dup	ENSP00000502261.1:p.Gln15_Ala16insGlu
ENST00000674600.1:c.44_46dup	ENSP00000501666.1:p.Gln15_Ala16insGlu
ENST00000674720.1:c.44_46dup	ENSP00000502798.1:p.Gln15_Ala16insGlu
ENST00000675455.1:c.44_46dup	ENSP00000501795.1:p.Gln15_Ala16insGlu
ENST00000675667.1:c.44_46dup	ENSP00000501803.1:p.Gln15_Ala16insGlu
ENST00000675874.1:c.44_46dup	ENSP00000501851.1:p.Gln15_Ala16insGlu
ENST00000675881.1:c.44_46dup	ENSP00000501670.1:p.Gln15_Ala16insGlu
ENST00000675939.1:c.44_46dup	ENSP00000502256.1:p.Gln15_Ala16insGlu
ENST00000675989.1:n.419_421dup
ENST00000676208.1:c.44_46dup	ENSP00000502468.1:p.Gln15_Ala16insGlu
ENST00000676283.1:n.419_421dup
ENST00000676385.2:c.44_46dup	ENSP00000502091.1:p.Gln15_Ala16insGlu
ENST00000676434.1:c.44_46dup	ENSP00000501648.1:p.Gln15_Ala16insGlu
ENST00000677389.1:c.44_46dup MANE Plus Clinical	ENSP00000503633.1:p.Gln15_Ala16insGlu
ENST00000347559.6:c.44_46dup	ENSP00000292304.3:p.Gln15_Ala16insGlu
ENST00000361308.8:c.44_46dup	ENSP00000355292.5:p.Gln15_Ala16insGlu
ENST00000368299.7:c.44_46dup	ENSP00000357282.3:p.Gln15_Ala16insGlu
ENST00000368300.8:c.44_46dup	ENSP00000357283.4:p.Gln15_Ala16insGlu
ENST00000368301.6:c.44_46dup	ENSP00000357284.2:p.Gln15_Ala16insGlu
ENST00000469565.6:n.80-2_80dup
ENST00000470199.2:n.252_254dup
ENST00000478063.2:n.202-2_202dup
ENST00000502751.5:n.329-15655_329-15653dup
NM_001282625.1:c.44_46dup	NP_001269554.1:p.Gln15_Ala16insGlu
NM_001282626.1:c.44_46dup	NP_001269555.1:p.Gln15_Ala16insGlu
NM_005572.3:c.44_46dup , LRG_254t1:c.44_46dup	NP_005563.1:p.Gln15_Ala16insGlu
NM_170707.3:c.44_46dup	NP_733821.1:p.Gln15_Ala16insGlu
NM_170708.3:c.44_46dup	NP_733822.1:p.Gln15_Ala16insGlu
XR_921781.1:n.293_295dup
XR_921781.2:n.291_293dup
NM_170707.4:c.44_46dup MANE Select	NP_733821.1:p.Gln15_Ala16insGlu
NM_001282626.2:c.44_46dup	NP_001269555.1:p.Gln15_Ala16insGlu
NM_001282625.2:c.44_46dup	NP_001269554.1:p.Gln15_Ala16insGlu
NM_005572.4:c.44_46dup MANE Plus Clinical	NP_005563.1:p.Gln15_Ala16insGlu
NM_170708.4:c.44_46dup	NP_733822.1:p.Gln15_Ala16insGlu