Canonical Allele Identifier: CA1200473126

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137670_156137678delinsAGCTGGTGC , CM000663.2:g.156137670_156137678delinsAGCTGGTGC	GRCh38
NC_000001.10:g.156107461_156107469delinsAGCTGGTGC , CM000663.1:g.156107461_156107469delinsAGCTGGTGC	GRCh37
NC_000001.9:g.154374085_154374093delinsAGCTGGTGC	NCBI36
NG_008692.2:g.60098_60106delinsAGCTGGTGC , LRG_254:g.60098_60106delinsAGCTGGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1067_1075delinsAGCTGGTGC	ENSP00000426535.3:p.Lys356=
ENST00000498722.3:n.857_865delinsAGCTGGTGC
ENST00000682650.1:c.1608+438_1608+446delinsAGCTGGTGC	ENSP00000506904.1:n.1608+438_1608+446delinsAGCTGGTGC
ENST00000683032.1:c.1625_1633delinsAGCTGGTGC	ENSP00000506771.1:p.Lys542=
ENST00000684195.1:c.1596_1604delinsAGCTGGTGC	ENSP00000508220.1:p.Gln532=
ENST00000361308.9:c.1625_1633delinsAGCTGGTGC	ENSP00000355292.6:p.Lys542=
ENST00000368300.9:c.1625_1633delinsAGCTGGTGC MANE Select	ENSP00000357283.4:p.Lys542=
ENST00000496738.6:n.2084_2092delinsAGCTGGTGC
ENST00000674518.1:c.*975_*983delinsAGCTGGTGC	ENSP00000502261.1:n.*975_*983delinsAGCTGGTGC
ENST00000674600.1:c.*1424_*1432delinsAGCTGGTGC	ENSP00000501666.1:n.*1424_*1432delinsAGCTGGTGC
ENST00000674720.1:c.*187_*195delinsAGCTGGTGC	ENSP00000502798.1:n.*187_*195delinsAGCTGGTGC
ENST00000675431.1:n.1318_1326delinsAGCTGGTGC
ENST00000675455.1:c.*1425_*1433delinsAGCTGGTGC	ENSP00000501795.1:n.*1425_*1433delinsAGCTGGTGC
ENST00000675667.1:c.1625_1633delinsAGCTGGTGC	ENSP00000501803.1:p.Lys542=
ENST00000675874.1:c.*1096_*1104delinsAGCTGGTGC	ENSP00000501851.1:n.*1096_*1104delinsAGCTGGTGC
ENST00000675881.1:c.*636_*644delinsAGCTGGTGC	ENSP00000501670.1:n.*636_*644delinsAGCTGGTGC
ENST00000675939.1:c.1625_1633delinsAGCTGGTGC	ENSP00000502256.1:p.Lys542=
ENST00000675989.1:n.2484_2492delinsAGCTGGTGC
ENST00000676208.1:c.*728_*736delinsAGCTGGTGC	ENSP00000502468.1:n.*728_*736delinsAGCTGGTGC
ENST00000676283.1:n.2421_2429delinsAGCTGGTGC
ENST00000676385.2:c.1608+438_1608+446delinsAGCTGGTGC	ENSP00000502091.1:n.1608+438_1608+446delinsAGCTGGTGC
ENST00000676434.1:c.*636_*644delinsAGCTGGTGC	ENSP00000501648.1:n.*636_*644delinsAGCTGGTGC
ENST00000677389.1:c.1625_1633delinsAGCTGGTGC MANE Plus Clinical	ENSP00000503633.1:p.Lys542=
ENST00000347559.6:c.1608+438_1608+446delinsAGCTGGTGC	ENSP00000292304.3:n.1608+438_1608+446delinsAGCTGGTGC
ENST00000361308.8:c.1370_1378delinsAGCTGGTGC	ENSP00000355292.5:p.Lys457=
ENST00000368297.5:c.1382_1390delinsAGCTGGTGC	ENSP00000357280.1:p.Lys461=
ENST00000368299.7:c.1625_1633delinsAGCTGGTGC	ENSP00000357282.3:p.Lys542=
ENST00000368300.8:c.1625_1633delinsAGCTGGTGC	ENSP00000357283.4:p.Lys542=
ENST00000368301.6:c.1625_1633delinsAGCTGGTGC	ENSP00000357284.2:p.Lys542=
ENST00000448611.6:c.1289_1297delinsAGCTGGTGC	ENSP00000395597.2:p.Lys430=
ENST00000473598.6:c.1328_1336delinsAGCTGGTGC	ENSP00000421821.1:p.Lys443=
ENST00000496738.5:n.1094_1102delinsAGCTGGTGC
ENST00000498722.2:n.857_865delinsAGCTGGTGC
ENST00000506981.1:n.209_217delinsAGCTGGTGC
ENST00000508500.1:c.486+438_486+446delinsAGCTGGTGC	ENSP00000424977.1:n.486+438_486+446delinsAGCTGGTGC
NM_001257374.2:c.1289_1297delinsAGCTGGTGC	NP_001244303.1:p.Lys430=
NM_001282624.1:c.1382_1390delinsAGCTGGTGC	NP_001269553.1:p.Lys461=
NM_001282625.1:c.1625_1633delinsAGCTGGTGC	NP_001269554.1:p.Lys542=
NM_001282626.1:c.1625_1633delinsAGCTGGTGC	NP_001269555.1:p.Lys542=
NM_005572.3:c.1625_1633delinsAGCTGGTGC , LRG_254t1:c.1625_1633delinsAGCTGGTGC	NP_005563.1:p.Lys542=
NM_170707.3:c.1625_1633delinsAGCTGGTGC	NP_733821.1:p.Lys542=
NM_170708.3:c.1608+438_1608+446delinsAGCTGGTGC	NP_733822.1:n.1608+438_1608+446delinsAGCTGGTGC
XM_011509533.1:c.1289_1297delinsAGCTGGTGC	XP_011507835.1:p.Lys430=
XM_011509534.1:c.1001_1009delinsAGCTGGTGC	XP_011507836.1:p.Lys334=
XR_921781.1:n.1914_1922delinsAGCTGGTGC
XM_011509534.2:c.1001_1009delinsAGCTGGTGC	XP_011507836.1:p.Lys334=
XR_921781.2:n.1912_1920delinsAGCTGGTGC
NM_170707.4:c.1625_1633delinsAGCTGGTGC MANE Select	NP_733821.1:p.Lys542=
NM_001257374.3:c.1289_1297delinsAGCTGGTGC	NP_001244303.1:p.Lys430=
NM_001282626.2:c.1625_1633delinsAGCTGGTGC	NP_001269555.1:p.Lys542=
NM_001282624.2:c.1382_1390delinsAGCTGGTGC	NP_001269553.1:p.Lys461=
NM_001282625.2:c.1625_1633delinsAGCTGGTGC	NP_001269554.1:p.Lys542=
NM_005572.4:c.1625_1633delinsAGCTGGTGC MANE Plus Clinical	NP_005563.1:p.Lys542=
NM_170708.4:c.1608+438_1608+446delinsAGCTGGTGC	NP_733822.1:n.1608+438_1608+446delinsAGCTGGTGC