Canonical Allele Identifier: CA658795539

Gene: LMNA

Linked Data

• ClinVar Variation Id: 501438
• ClinVar RCV Id: RCV000594291
• dbSNP Id: rs1553266165
• MyVariant Identifiers: chr1:g.156107007_156107009del (hg19) ; chr1:g.156137216_156137218del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137216_156137218del , CM000663.2:g.156137216_156137218del	GRCh38
NC_000001.10:g.156107007_156107009del , CM000663.1:g.156107007_156107009del	GRCh37
NC_000001.9:g.154373631_154373633del	NCBI36
NG_008692.2:g.59644_59646del , LRG_254:g.59644_59646del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1034_1036del	ENSP00000426535.3:p.Ile345del
ENST00000459904.2:n.840_842del
ENST00000498722.3:n.824_826del
ENST00000682650.1:c.1592_1594del	ENSP00000506904.1:p.Ile531del
ENST00000683032.1:c.1592_1594del	ENSP00000506771.1:p.Ile531del
ENST00000684195.1:c.1579+13_1579+15del	ENSP00000508220.1:n.1579+13_1579+15del
ENST00000361308.9:c.1592_1594del	ENSP00000355292.6:p.Ile531del
ENST00000368300.9:c.1592_1594del MANE Select	ENSP00000357283.4:p.Ile531del
ENST00000496738.6:n.2051_2053del
ENST00000674518.1:c.*942_*944del	ENSP00000502261.1:n.*942_*944del
ENST00000674600.1:c.*1391_*1393del	ENSP00000501666.1:n.*1391_*1393del
ENST00000674720.1:c.*154_*156del	ENSP00000502798.1:n.*154_*156del
ENST00000675431.1:n.1285_1287del
ENST00000675455.1:c.*1392_*1394del	ENSP00000501795.1:n.*1392_*1394del
ENST00000675667.1:c.1592_1594del	ENSP00000501803.1:p.Ile531del
ENST00000675874.1:c.*1063_*1065del	ENSP00000501851.1:n.*1063_*1065del
ENST00000675881.1:c.*603_*605del	ENSP00000501670.1:n.*603_*605del
ENST00000675939.1:c.1592_1594del	ENSP00000502256.1:p.Ile531del
ENST00000675989.1:n.2451_2453del
ENST00000676208.1:c.*695_*697del	ENSP00000502468.1:n.*695_*697del
ENST00000676283.1:n.1967_1969del
ENST00000676385.2:c.1592_1594del	ENSP00000502091.1:p.Ile531del
ENST00000676434.1:c.*603_*605del	ENSP00000501648.1:n.*603_*605del
ENST00000677389.1:c.1592_1594del MANE Plus Clinical	ENSP00000503633.1:p.Ile531del
ENST00000347559.6:c.1592_1594del	ENSP00000292304.3:p.Ile531del
ENST00000361308.8:c.1337_1339del	ENSP00000355292.5:p.Ile446del
ENST00000368297.5:c.1349_1351del	ENSP00000357280.1:p.Ile450del
ENST00000368298.2:n.1424_1426del
ENST00000368299.7:c.1592_1594del	ENSP00000357282.3:p.Ile531del
ENST00000368300.8:c.1592_1594del	ENSP00000357283.4:p.Ile531del
ENST00000368301.6:c.1592_1594del	ENSP00000357284.2:p.Ile531del
ENST00000448611.6:c.1256_1258del	ENSP00000395597.2:p.Ile419del
ENST00000459904.1:n.840_842del
ENST00000473598.6:c.1295_1297del	ENSP00000421821.1:p.Ile432del
ENST00000496738.5:n.1061_1063del
ENST00000498722.2:n.824_826del
ENST00000508500.1:c.470_472del	ENSP00000424977.1:p.Ile157del
NM_001257374.2:c.1256_1258del	NP_001244303.1:p.Ile419del
NM_001282624.1:c.1349_1351del	NP_001269553.1:p.Ile450del
NM_001282625.1:c.1592_1594del	NP_001269554.1:p.Ile531del
NM_001282626.1:c.1592_1594del	NP_001269555.1:p.Ile531del
NM_005572.3:c.1592_1594del , LRG_254t1:c.1592_1594del	NP_005563.1:p.Ile531del
NM_170707.3:c.1592_1594del	NP_733821.1:p.Ile531del
NM_170708.3:c.1592_1594del	NP_733822.1:p.Ile531del
XM_011509533.1:c.1256_1258del	XP_011507835.1:p.Ile419del
XM_011509534.1:c.968_970del	XP_011507836.1:p.Ile323del
XR_921781.1:n.1881_1883del
XM_011509534.2:c.968_970del	XP_011507836.1:p.Ile323del
XR_921781.2:n.1879_1881del
NM_170707.4:c.1592_1594del MANE Select	NP_733821.1:p.Ile531del
NM_001257374.3:c.1256_1258del	NP_001244303.1:p.Ile419del
NM_001282626.2:c.1592_1594del	NP_001269555.1:p.Ile531del
NM_001282624.2:c.1349_1351del	NP_001269553.1:p.Ile450del
NM_001282625.2:c.1592_1594del	NP_001269554.1:p.Ile531del
NM_005572.4:c.1592_1594del MANE Plus Clinical	NP_005563.1:p.Ile531del
NM_170708.4:c.1592_1594del	NP_733822.1:p.Ile531del