Canonical Allele Identifier: CA1200467670

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156130689_156130692delinsCAAG , CM000663.2:g.156130689_156130692delinsCAAG	GRCh38
NC_000001.10:g.156100480_156100483delinsCAAG , CM000663.1:g.156100480_156100483delinsCAAG	GRCh37
NC_000001.9:g.154367104_154367107delinsCAAG	NCBI36
NG_008692.2:g.53117_53120delinsCAAG , LRG_254:g.53117_53120delinsCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.-130_-127delinsCAAG	ENSP00000426535.3:n.-130_-127delinsCAAG
ENST00000682650.1:c.429_432delinsCAAG	ENSP00000506904.1:p.Ser143=
ENST00000683032.1:c.429_432delinsCAAG	ENSP00000506771.1:p.Ser143=
ENST00000684195.1:c.429_432delinsCAAG	ENSP00000508220.1:p.Ser143=
ENST00000361308.9:c.429_432delinsCAAG	ENSP00000355292.6:p.Ser143=
ENST00000368300.9:c.429_432delinsCAAG MANE Select	ENSP00000357283.4:p.Ser143=
ENST00000496738.6:n.804_807delinsCAAG
ENST00000504687.6:c.-236_-233delinsCAAG	ENSP00000426535.2:n.-236_-233delinsCAAG
ENST00000674518.1:c.429_432delinsCAAG	ENSP00000502261.1:p.Ser143=
ENST00000674600.1:c.*228_*231delinsCAAG	ENSP00000501666.1:n.*228_*231delinsCAAG
ENST00000674720.1:c.429_432delinsCAAG	ENSP00000502798.1:p.Ser143=
ENST00000675431.1:n.122_125delinsCAAG
ENST00000675455.1:c.*229_*232delinsCAAG	ENSP00000501795.1:n.*229_*232delinsCAAG
ENST00000675667.1:c.429_432delinsCAAG	ENSP00000501803.1:p.Ser143=
ENST00000675874.1:c.357-3714_357-3711delinsCAAG	ENSP00000501851.1:n.357-3714_357-3711delinsCAAG
ENST00000675881.1:c.429_432delinsCAAG	ENSP00000501670.1:p.Ser143=
ENST00000675939.1:c.429_432delinsCAAG	ENSP00000502256.1:p.Ser143=
ENST00000675989.1:n.804_807delinsCAAG
ENST00000676208.1:c.429_432delinsCAAG	ENSP00000502468.1:p.Ser143=
ENST00000676283.1:n.804_807delinsCAAG
ENST00000676385.2:c.429_432delinsCAAG	ENSP00000502091.1:p.Ser143=
ENST00000676434.1:c.429_432delinsCAAG	ENSP00000501648.1:p.Ser143=
ENST00000677389.1:c.429_432delinsCAAG MANE Plus Clinical	ENSP00000503633.1:p.Ser143=
ENST00000347559.6:c.429_432delinsCAAG	ENSP00000292304.3:p.Ser143=
ENST00000361308.8:c.429_432delinsCAAG	ENSP00000355292.5:p.Ser143=
ENST00000368297.5:c.186_189delinsCAAG	ENSP00000357280.1:p.Ser62=
ENST00000368299.7:c.429_432delinsCAAG	ENSP00000357282.3:p.Ser143=
ENST00000368300.8:c.429_432delinsCAAG	ENSP00000357283.4:p.Ser143=
ENST00000368301.6:c.429_432delinsCAAG	ENSP00000357284.2:p.Ser143=
ENST00000448611.6:c.93_96delinsCAAG	ENSP00000395597.2:p.Ser31=
ENST00000469565.6:n.463_466delinsCAAG
ENST00000470199.2:n.371_374delinsCAAG
ENST00000473598.6:c.132_135delinsCAAG	ENSP00000421821.1:p.Ser44=
ENST00000502357.5:n.327_330delinsCAAG
ENST00000502751.5:n.401_404delinsCAAG
ENST00000504687.5:c.180_183delinsCAAG	ENSP00000426535.1:p.Ser60=
ENST00000515459.5:c.*103_*106delinsCAAG	ENSP00000424518.1:n.*103_*106delinsCAAG
NM_001257374.2:c.93_96delinsCAAG	NP_001244303.1:p.Ser31=
NM_001282624.1:c.186_189delinsCAAG	NP_001269553.1:p.Ser62=
NM_001282625.1:c.429_432delinsCAAG	NP_001269554.1:p.Ser143=
NM_001282626.1:c.429_432delinsCAAG	NP_001269555.1:p.Ser143=
NM_005572.3:c.429_432delinsCAAG , LRG_254t1:c.429_432delinsCAAG	NP_005563.1:p.Ser143=
NM_170707.3:c.429_432delinsCAAG	NP_733821.1:p.Ser143=
NM_170708.3:c.429_432delinsCAAG	NP_733822.1:p.Ser143=
XM_011509533.1:c.93_96delinsCAAG	XP_011507835.1:p.Ser31=
XM_011509534.1:c.-236_-233delinsCAAG	XP_011507836.1:n.-236_-233delinsCAAG
XR_921781.1:n.678_681delinsCAAG
XM_011509534.2:c.-236_-233delinsCAAG	XP_011507836.1:n.-236_-233delinsCAAG
XR_921781.2:n.676_679delinsCAAG
NM_170707.4:c.429_432delinsCAAG MANE Select	NP_733821.1:p.Ser143=
NM_001257374.3:c.93_96delinsCAAG	NP_001244303.1:p.Ser31=
NM_001282626.2:c.429_432delinsCAAG	NP_001269555.1:p.Ser143=
NM_001282624.2:c.186_189delinsCAAG	NP_001269553.1:p.Ser62=
NM_001282625.2:c.429_432delinsCAAG	NP_001269554.1:p.Ser143=
NM_005572.4:c.429_432delinsCAAG MANE Plus Clinical	NP_005563.1:p.Ser143=
NM_170708.4:c.429_432delinsCAAG	NP_733822.1:p.Ser143=