Canonical Allele Identifier: CA053881

Gene: LMNA

Linked Data

• dbSNP Id: rs779105198
• ExAC: 1:156104356 TGG / T
• gnomAD v2: 1-156104356-TGG-T
• gnomAD v4: 1-156134565-TGG-T
• MyVariant Identifiers: chr1:g.156104357_156104358del (hg19) ; chr1:g.156134566_156134567del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134567_156134568del , CM000663.2:g.156134567_156134568del	GRCh38
NC_000001.10:g.156104358_156104359del , CM000663.1:g.156104358_156104359del	GRCh37
NC_000001.9:g.154370982_154370983del	NCBI36
NG_008692.2:g.56995_56996del , LRG_254:g.56995_56996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.81+39_81+40del	ENSP00000426535.3:n.81+39_81+40del
ENST00000682650.1:c.639+39_639+40del	ENSP00000506904.1:n.639+39_639+40del
ENST00000683032.1:c.639+39_639+40del	ENSP00000506771.1:n.639+39_639+40del
ENST00000684195.1:c.639+39_639+40del	ENSP00000508220.1:n.639+39_639+40del
ENST00000361308.9:c.639+39_639+40del	ENSP00000355292.6:n.639+39_639+40del
ENST00000368300.9:c.639+39_639+40del MANE Select	ENSP00000357283.4:n.639+39_639+40del
ENST00000496738.6:n.1014+39_1014+40del
ENST00000504687.6:c.-26+39_-26+40del	ENSP00000426535.2:n.-26+39_-26+40del
ENST00000674518.1:c.634+44_634+45del	ENSP00000502261.1:n.634+44_634+45del
ENST00000674600.1:c.*438+39_*438+40del	ENSP00000501666.1:n.*438+39_*438+40del
ENST00000674720.1:c.639+39_639+40del	ENSP00000502798.1:n.639+39_639+40del
ENST00000675431.1:n.332+39_332+40del
ENST00000675455.1:c.*439+39_*439+40del	ENSP00000501795.1:n.*439+39_*439+40del
ENST00000675667.1:c.639+39_639+40del	ENSP00000501803.1:n.639+39_639+40del
ENST00000675874.1:c.*110+39_*110+40del	ENSP00000501851.1:n.*110+39_*110+40del
ENST00000675881.1:c.639+39_639+40del	ENSP00000501670.1:n.639+39_639+40del
ENST00000675939.1:c.639+39_639+40del	ENSP00000502256.1:n.639+39_639+40del
ENST00000675989.1:n.1014+39_1014+40del
ENST00000676208.1:c.639+39_639+40del	ENSP00000502468.1:n.639+39_639+40del
ENST00000676283.1:n.1014+39_1014+40del
ENST00000676385.2:c.639+39_639+40del	ENSP00000502091.1:n.639+39_639+40del
ENST00000676434.1:c.639+39_639+40del	ENSP00000501648.1:n.639+39_639+40del
ENST00000677389.1:c.639+39_639+40del MANE Plus Clinical	ENSP00000503633.1:n.639+39_639+40del
ENST00000347559.6:c.639+39_639+40del	ENSP00000292304.3:n.639+39_639+40del
ENST00000361308.8:c.639+39_639+40del	ENSP00000355292.5:n.639+39_639+40del
ENST00000368297.5:c.396+39_396+40del	ENSP00000357280.1:n.396+39_396+40del
ENST00000368299.7:c.639+39_639+40del	ENSP00000357282.3:n.639+39_639+40del
ENST00000368300.8:c.639+39_639+40del	ENSP00000357283.4:n.639+39_639+40del
ENST00000368301.6:c.639+39_639+40del	ENSP00000357284.2:n.639+39_639+40del
ENST00000448611.6:c.303+39_303+40del	ENSP00000395597.2:n.303+39_303+40del
ENST00000473598.6:c.342+39_342+40del	ENSP00000421821.1:n.342+39_342+40del
ENST00000504687.5:c.390+39_390+40del	ENSP00000426535.1:n.390+39_390+40del
ENST00000515459.5:c.*313+39_*313+40del	ENSP00000424518.1:n.*313+39_*313+40del
NM_001257374.2:c.303+39_303+40del	NP_001244303.1:n.303+39_303+40del
NM_001282624.1:c.396+39_396+40del	NP_001269553.1:n.396+39_396+40del
NM_001282625.1:c.639+39_639+40del	NP_001269554.1:n.639+39_639+40del
NM_001282626.1:c.639+39_639+40del	NP_001269555.1:n.639+39_639+40del
NM_005572.3:c.639+39_639+40del , LRG_254t1:c.639+39_639+40del	NP_005563.1:n.639+39_639+40del
NM_170707.3:c.639+39_639+40del	NP_733821.1:n.639+39_639+40del
NM_170708.3:c.639+39_639+40del	NP_733822.1:n.639+39_639+40del
XM_011509533.1:c.303+39_303+40del	XP_011507835.1:n.303+39_303+40del
XM_011509534.1:c.-26+39_-26+40del	XP_011507836.1:n.-26+39_-26+40del
XR_921781.1:n.888+39_888+40del
XM_011509534.2:c.-26+39_-26+40del	XP_011507836.1:n.-26+39_-26+40del
XR_921781.2:n.886+39_886+40del
NM_170707.4:c.639+39_639+40del MANE Select	NP_733821.1:n.639+39_639+40del
NM_001257374.3:c.303+39_303+40del	NP_001244303.1:n.303+39_303+40del
NM_001282626.2:c.639+39_639+40del	NP_001269555.1:n.639+39_639+40del
NM_001282624.2:c.396+39_396+40del	NP_001269553.1:n.396+39_396+40del
NM_001282625.2:c.639+39_639+40del	NP_001269554.1:n.639+39_639+40del
NM_005572.4:c.639+39_639+40del MANE Plus Clinical	NP_005563.1:n.639+39_639+40del
NM_170708.4:c.639+39_639+40del	NP_733822.1:n.639+39_639+40del