Canonical Allele Identifier: CA2739275317

Gene: LMNA

Linked Data

• ClinVar Variation Id: 2852181
• ClinVar RCV Id: RCV003743092

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136053_156136078dup , CM000663.2:g.156136053_156136078dup	GRCh38
NC_000001.10:g.156105844_156105869dup , CM000663.1:g.156105844_156105869dup	GRCh37
NC_000001.9:g.154372468_154372493dup	NCBI36
NG_008692.2:g.58481_58506dup , LRG_254:g.58481_58506dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.531_556dup	ENSP00000426535.3:p.Glu186GlyfsTer?
ENST00000498722.3:n.321_346dup
ENST00000682650.1:c.1089_1114dup	ENSP00000506904.1:p.Glu372GlyfsTer?
ENST00000683032.1:c.1089_1114dup	ENSP00000506771.1:p.Glu372GlyfsTer?
ENST00000684195.1:c.1089_1114dup	ENSP00000508220.1:p.Glu372GlyfsTer?
ENST00000361308.9:c.1089_1114dup	ENSP00000355292.6:p.Glu372GlyfsTer?
ENST00000368300.9:c.1089_1114dup MANE Select	ENSP00000357283.4:p.Glu372GlyfsTer?
ENST00000496738.6:n.1464_1489dup
ENST00000674518.1:c.*439_*464dup	ENSP00000502261.1:n.*439_*464dup
ENST00000674600.1:c.*888_*913dup	ENSP00000501666.1:n.*888_*913dup
ENST00000674720.1:c.1089_1114dup	ENSP00000502798.1:p.Glu372GlyfsTer?
ENST00000675431.1:n.782_807dup
ENST00000675455.1:c.*889_*914dup	ENSP00000501795.1:n.*889_*914dup
ENST00000675667.1:c.1089_1114dup	ENSP00000501803.1:p.Glu372GlyfsTer?
ENST00000675874.1:c.*560_*585dup	ENSP00000501851.1:n.*560_*585dup
ENST00000675881.1:c.*100_*125dup	ENSP00000501670.1:n.*100_*125dup
ENST00000675939.1:c.1089_1114dup	ENSP00000502256.1:p.Glu372GlyfsTer?
ENST00000675989.1:n.1464_1489dup
ENST00000676208.1:c.*100_*125dup	ENSP00000502468.1:n.*100_*125dup
ENST00000676283.1:n.1464_1489dup
ENST00000676385.2:c.1089_1114dup	ENSP00000502091.1:p.Glu372GlyfsTer?
ENST00000676434.1:c.*100_*125dup	ENSP00000501648.1:n.*100_*125dup
ENST00000677389.1:c.1089_1114dup MANE Plus Clinical	ENSP00000503633.1:p.Glu372GlyfsTer?
ENST00000347559.6:c.1089_1114dup	ENSP00000292304.3:p.Glu372GlyfsTer?
ENST00000361308.8:c.1089_1114dup	ENSP00000355292.5:p.Glu372GlyfsTer?
ENST00000368297.5:c.846_871dup	ENSP00000357280.1:p.Glu291GlyfsTer?
ENST00000368298.2:n.353_378dup
ENST00000368299.7:c.1089_1114dup	ENSP00000357282.3:p.Glu372GlyfsTer?
ENST00000368300.8:c.1089_1114dup	ENSP00000357283.4:p.Glu372GlyfsTer?
ENST00000368301.6:c.1089_1114dup	ENSP00000357284.2:p.Glu372GlyfsTer?
ENST00000448611.6:c.753_778dup	ENSP00000395597.2:p.Glu260GlyfsTer?
ENST00000473598.6:c.792_817dup	ENSP00000421821.1:p.Glu273GlyfsTer?
ENST00000496738.5:n.474_499dup
ENST00000498722.2:n.321_346dup
NM_001257374.2:c.753_778dup	NP_001244303.1:p.Glu260GlyfsTer?
NM_001282624.1:c.846_871dup	NP_001269553.1:p.Glu291GlyfsTer?
NM_001282625.1:c.1089_1114dup	NP_001269554.1:p.Glu372GlyfsTer?
NM_001282626.1:c.1089_1114dup	NP_001269555.1:p.Glu372GlyfsTer?
NM_005572.3:c.1089_1114dup , LRG_254t1:c.1089_1114dup	NP_005563.1:p.Glu372GlyfsTer?
NM_170707.3:c.1089_1114dup	NP_733821.1:p.Glu372GlyfsTer?
NM_170708.3:c.1089_1114dup	NP_733822.1:p.Glu372GlyfsTer?
XM_011509533.1:c.753_778dup	XP_011507835.1:p.Glu260GlyfsTer?
XM_011509534.1:c.465_490dup	XP_011507836.1:p.Glu164GlyfsTer?
XR_921781.1:n.1378_1403dup
XM_011509534.2:c.465_490dup	XP_011507836.1:p.Glu164GlyfsTer?
XR_921781.2:n.1376_1401dup
NM_170707.4:c.1089_1114dup MANE Select	NP_733821.1:p.Glu372GlyfsTer?
NM_001257374.3:c.753_778dup	NP_001244303.1:p.Glu260GlyfsTer?
NM_001282626.2:c.1089_1114dup	NP_001269555.1:p.Glu372GlyfsTer?
NM_001282624.2:c.846_871dup	NP_001269553.1:p.Glu291GlyfsTer?
NM_001282625.2:c.1089_1114dup	NP_001269554.1:p.Glu372GlyfsTer?
NM_005572.4:c.1089_1114dup MANE Plus Clinical	NP_005563.1:p.Glu372GlyfsTer?
NM_170708.4:c.1089_1114dup	NP_733822.1:p.Glu372GlyfsTer?