Canonical Allele Identifier: CA017229

Gene: LMNA

Linked Data

• ClinVar Variation Id: 95287
• ClinVar RCV Id: RCV000081301 ; RCV001187167 ; RCV001212011 ; RCV002390237 ; RCV003997207
• dbSNP Id: rs267607579
• gnomAD v4: 1-156136961-G-GAGA
• MyVariant Identifiers: chr1:g.156106753_156106755dup (hg19) ; chr1:g.156106753_156106755dupAGA (hg19) ; chr1:g.156106752_156106753insAGA (hg19) ; chr1:g.156136962_156136964dupAGA (hg38)
• PubMed: PMID:23757202

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136962_156136964dup , CM000663.2:g.156136962_156136964dup	GRCh38
NC_000001.10:g.156106753_156106755dup , CM000663.1:g.156106753_156106755dup	GRCh37
NC_000001.9:g.154373377_154373379dup	NCBI36
NG_008692.2:g.59390_59392dup , LRG_254:g.59390_59392dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.864_866dup	ENSP00000426535.3:p.Gly288_Asp289insGlu
ENST00000459904.2:n.670_672dup
ENST00000498722.3:n.654_656dup
ENST00000682650.1:c.1422_1424dup	ENSP00000506904.1:p.Gly474_Asp475insGlu
ENST00000683032.1:c.1422_1424dup	ENSP00000506771.1:p.Gly474_Asp475insGlu
ENST00000684195.1:c.1422_1424dup	ENSP00000508220.1:p.Gly474_Asp475insGlu
ENST00000361308.9:c.1422_1424dup	ENSP00000355292.6:p.Gly474_Asp475insGlu
ENST00000368300.9:c.1422_1424dup MANE Select	ENSP00000357283.4:p.Gly474_Asp475insGlu
ENST00000496738.6:n.1797_1799dup
ENST00000674518.1:c.*772_*774dup	ENSP00000502261.1:n.*772_*774dup
ENST00000674600.1:c.*1221_*1223dup	ENSP00000501666.1:n.*1221_*1223dup
ENST00000674720.1:c.1535_1537dup	ENSP00000502798.1:p.Glu512_Met513insLys
ENST00000675431.1:n.1115_1117dup
ENST00000675455.1:c.*1222_*1224dup	ENSP00000501795.1:n.*1222_*1224dup
ENST00000675667.1:c.1422_1424dup	ENSP00000501803.1:p.Gly474_Asp475insGlu
ENST00000675874.1:c.*893_*895dup	ENSP00000501851.1:n.*893_*895dup
ENST00000675881.1:c.*433_*435dup	ENSP00000501670.1:n.*433_*435dup
ENST00000675939.1:c.1422_1424dup	ENSP00000502256.1:p.Gly474_Asp475insGlu
ENST00000675989.1:n.2281_2283dup
ENST00000676208.1:c.*525_*527dup	ENSP00000502468.1:n.*525_*527dup
ENST00000676283.1:n.1797_1799dup
ENST00000676385.2:c.1422_1424dup	ENSP00000502091.1:p.Gly474_Asp475insGlu
ENST00000676434.1:c.*433_*435dup	ENSP00000501648.1:n.*433_*435dup
ENST00000677389.1:c.1422_1424dup MANE Plus Clinical	ENSP00000503633.1:p.Gly474_Asp475insGlu
ENST00000347559.6:c.1422_1424dup	ENSP00000292304.3:p.Gly474_Asp475insGlu
ENST00000361308.8:c.1312-229_1312-227dup	ENSP00000355292.5:n.1312-229_1312-227dup
ENST00000368297.5:c.1179_1181dup	ENSP00000357280.1:p.Gly393_Asp394insGlu
ENST00000368298.2:n.1170_1172dup
ENST00000368299.7:c.1422_1424dup	ENSP00000357282.3:p.Gly474_Asp475insGlu
ENST00000368300.8:c.1422_1424dup	ENSP00000357283.4:p.Gly474_Asp475insGlu
ENST00000368301.6:c.1422_1424dup	ENSP00000357284.2:p.Gly474_Asp475insGlu
ENST00000448611.6:c.1086_1088dup	ENSP00000395597.2:p.Gly362_Asp363insGlu
ENST00000459904.1:n.670_672dup
ENST00000473598.6:c.1125_1127dup	ENSP00000421821.1:p.Gly375_Asp376insGlu
ENST00000496738.5:n.807_809dup
ENST00000498722.2:n.654_656dup
ENST00000508500.1:c.300_302dup	ENSP00000424977.1:p.Gly100_Asp101insGlu
NM_001257374.2:c.1086_1088dup	NP_001244303.1:p.Gly362_Asp363insGlu
NM_001282624.1:c.1179_1181dup	NP_001269553.1:p.Gly393_Asp394insGlu
NM_001282625.1:c.1422_1424dup	NP_001269554.1:p.Gly474_Asp475insGlu
NM_001282626.1:c.1422_1424dup	NP_001269555.1:p.Gly474_Asp475insGlu
NM_005572.3:c.1422_1424dup , LRG_254t1:c.1422_1424dup	NP_005563.1:p.Gly474_Asp475insGlu
NM_170707.3:c.1422_1424dup	NP_733821.1:p.Gly474_Asp475insGlu
NM_170708.3:c.1422_1424dup	NP_733822.1:p.Gly474_Asp475insGlu
XM_011509533.1:c.1086_1088dup	XP_011507835.1:p.Gly362_Asp363insGlu
XM_011509534.1:c.798_800dup	XP_011507836.1:p.Gly266_Asp267insGlu
XR_921781.1:n.1711_1713dup
XM_011509534.2:c.798_800dup	XP_011507836.1:p.Gly266_Asp267insGlu
XR_921781.2:n.1709_1711dup
NM_170707.4:c.1422_1424dup MANE Select	NP_733821.1:p.Gly474_Asp475insGlu
NM_001257374.3:c.1086_1088dup	NP_001244303.1:p.Gly362_Asp363insGlu
NM_001282626.2:c.1422_1424dup	NP_001269555.1:p.Gly474_Asp475insGlu
NM_001282624.2:c.1179_1181dup	NP_001269553.1:p.Gly393_Asp394insGlu
NM_001282625.2:c.1422_1424dup	NP_001269554.1:p.Gly474_Asp475insGlu
NM_005572.4:c.1422_1424dup MANE Plus Clinical	NP_005563.1:p.Gly474_Asp475insGlu
NM_170708.4:c.1422_1424dup	NP_733822.1:p.Gly474_Asp475insGlu