Canonical Allele Identifier: CA017371

Gene: LMNA

Linked Data

• ClinVar Variation Id: 66839
• ClinVar RCV Id: RCV000057313
• dbSNP Id: rs267607580
• MyVariant Identifiers: chr1:g.156106911del (hg19) ; chr1:g.156137120del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137120del , CM000663.2:g.156137120del	GRCh38
NC_000001.10:g.156106911del , CM000663.1:g.156106911del	GRCh37
NC_000001.9:g.154373535del	NCBI36
NG_008692.2:g.59548del , LRG_254:g.59548del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.938del	ENSP00000426535.3:p.Ala313ValfsTer?
ENST00000459904.2:n.744del
ENST00000498722.3:n.728del
ENST00000682650.1:c.1496del	ENSP00000506904.1:p.Ala499ValfsTer?
ENST00000683032.1:c.1496del	ENSP00000506771.1:p.Ala499ValfsTer?
ENST00000684195.1:c.1496del	ENSP00000508220.1:p.Ala499ValfsTer?
ENST00000361308.9:c.1496del	ENSP00000355292.6:p.Ala499ValfsTer?
ENST00000368300.9:c.1496del MANE Select	ENSP00000357283.4:p.Ala499ValfsTer?
ENST00000496738.6:n.1955del
ENST00000674518.1:c.*846del	ENSP00000502261.1:n.*846del
ENST00000674600.1:c.*1295del	ENSP00000501666.1:n.*1295del
ENST00000674720.1:c.*58del	ENSP00000502798.1:n.*58del
ENST00000675431.1:n.1189del
ENST00000675455.1:c.*1296del	ENSP00000501795.1:n.*1296del
ENST00000675667.1:c.1496del	ENSP00000501803.1:p.Ala499ValfsTer?
ENST00000675874.1:c.*967del	ENSP00000501851.1:n.*967del
ENST00000675881.1:c.*507del	ENSP00000501670.1:n.*507del
ENST00000675939.1:c.1496del	ENSP00000502256.1:p.Ala499ValfsTer?
ENST00000675989.1:n.2355del
ENST00000676208.1:c.*599del	ENSP00000502468.1:n.*599del
ENST00000676283.1:n.1871del
ENST00000676385.2:c.1496del	ENSP00000502091.1:p.Ala499ValfsTer?
ENST00000676434.1:c.*507del	ENSP00000501648.1:n.*507del
ENST00000677389.1:c.1496del MANE Plus Clinical	ENSP00000503633.1:p.Ala499ValfsTer?
ENST00000347559.6:c.1496del	ENSP00000292304.3:p.Ala499ValfsTer?
ENST00000361308.8:c.1312-71del	ENSP00000355292.5:n.1312-71del
ENST00000368297.5:c.1253del	ENSP00000357280.1:p.Ala418ValfsTer?
ENST00000368298.2:n.1328del
ENST00000368299.7:c.1496del	ENSP00000357282.3:p.Ala499ValfsTer?
ENST00000368300.8:c.1496del	ENSP00000357283.4:p.Ala499ValfsTer?
ENST00000368301.6:c.1496del	ENSP00000357284.2:p.Ala499ValfsTer?
ENST00000448611.6:c.1160del	ENSP00000395597.2:p.Ala387ValfsTer?
ENST00000459904.1:n.744del
ENST00000473598.6:c.1199del	ENSP00000421821.1:p.Ala400ValfsTer?
ENST00000496738.5:n.965del
ENST00000498722.2:n.728del
ENST00000508500.1:c.374del	ENSP00000424977.1:p.Ala125ValfsTer?
NM_001257374.2:c.1160del	NP_001244303.1:p.Ala387ValfsTer?
NM_001282624.1:c.1253del	NP_001269553.1:p.Ala418ValfsTer?
NM_001282625.1:c.1496del	NP_001269554.1:p.Ala499ValfsTer?
NM_001282626.1:c.1496del	NP_001269555.1:p.Ala499ValfsTer?
NM_005572.3:c.1496del , LRG_254t1:c.1496del	NP_005563.1:p.Ala499ValfsTer?
NM_170707.3:c.1496del	NP_733821.1:p.Ala499ValfsTer?
NM_170708.3:c.1496del	NP_733822.1:p.Ala499ValfsTer?
XM_011509533.1:c.1160del	XP_011507835.1:p.Ala387ValfsTer?
XM_011509534.1:c.872del	XP_011507836.1:p.Ala291ValfsTer?
XR_921781.1:n.1785del
XM_011509534.2:c.872del	XP_011507836.1:p.Ala291ValfsTer?
XR_921781.2:n.1783del
NM_170707.4:c.1496del MANE Select	NP_733821.1:p.Ala499ValfsTer?
NM_001257374.3:c.1160del	NP_001244303.1:p.Ala387ValfsTer?
NM_001282626.2:c.1496del	NP_001269555.1:p.Ala499ValfsTer?
NM_001282624.2:c.1253del	NP_001269553.1:p.Ala418ValfsTer?
NM_001282625.2:c.1496del	NP_001269554.1:p.Ala499ValfsTer?
NM_005572.4:c.1496del MANE Plus Clinical	NP_005563.1:p.Ala499ValfsTer?
NM_170708.4:c.1496del	NP_733822.1:p.Ala499ValfsTer?