Canonical Allele Identifier: CA645372479

Gene: LMNA

Linked Data

• ClinVar Variation Id: 435777
• ClinVar RCV Id: RCV000500127
• dbSNP Id: rs1553265436
• MyVariant Identifiers: chr1:g.156105007_156105012del (hg19) ; chr1:g.156135216_156135221del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135216_156135221del , CM000663.2:g.156135216_156135221del	GRCh38
NC_000001.10:g.156105007_156105012del , CM000663.1:g.156105007_156105012del	GRCh37
NC_000001.9:g.154371631_154371636del	NCBI36
NG_008692.2:g.57644_57649del , LRG_254:g.57644_57649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.282_287del	ENSP00000426535.3:p.Arg94_Asn95del
ENST00000682650.1:c.840_845del	ENSP00000506904.1:p.Arg280_Asn281del
ENST00000683032.1:c.840_845del	ENSP00000506771.1:p.Arg280_Asn281del
ENST00000684195.1:c.840_845del	ENSP00000508220.1:p.Arg280_Asn281del
ENST00000361308.9:c.840_845del	ENSP00000355292.6:p.Arg280_Asn281del
ENST00000368300.9:c.840_845del MANE Select	ENSP00000357283.4:p.Arg280_Asn281del
ENST00000496738.6:n.1215_1220del
ENST00000674518.1:c.*190_*195del	ENSP00000502261.1:n.*190_*195del
ENST00000674600.1:c.*639_*644del	ENSP00000501666.1:n.*639_*644del
ENST00000674720.1:c.840_845del	ENSP00000502798.1:p.Arg280_Asn281del
ENST00000675431.1:n.533_538del
ENST00000675455.1:c.*640_*645del	ENSP00000501795.1:n.*640_*645del
ENST00000675667.1:c.840_845del	ENSP00000501803.1:p.Arg280_Asn281del
ENST00000675874.1:c.*311_*316del	ENSP00000501851.1:n.*311_*316del
ENST00000675881.1:c.840_845del	ENSP00000501670.1:p.Arg280_Asn281del
ENST00000675939.1:c.840_845del	ENSP00000502256.1:p.Arg280_Asn281del
ENST00000675989.1:n.1215_1220del
ENST00000676208.1:c.840_845del	ENSP00000502468.1:p.Arg280_Asn281del
ENST00000676283.1:n.1215_1220del
ENST00000676385.2:c.840_845del	ENSP00000502091.1:p.Arg280_Asn281del
ENST00000676434.1:c.840_845del	ENSP00000501648.1:p.Arg280_Asn281del
ENST00000677389.1:c.840_845del MANE Plus Clinical	ENSP00000503633.1:p.Arg280_Asn281del
ENST00000347559.6:c.840_845del	ENSP00000292304.3:p.Arg280_Asn281del
ENST00000361308.8:c.840_845del	ENSP00000355292.5:p.Arg280_Asn281del
ENST00000368297.5:c.597_602del	ENSP00000357280.1:p.Arg199_Asn200del
ENST00000368298.2:n.104_109del
ENST00000368299.7:c.840_845del	ENSP00000357282.3:p.Arg280_Asn281del
ENST00000368300.8:c.840_845del	ENSP00000357283.4:p.Arg280_Asn281del
ENST00000368301.6:c.840_845del	ENSP00000357284.2:p.Arg280_Asn281del
ENST00000448611.6:c.504_509del	ENSP00000395597.2:p.Arg168_Asn169del
ENST00000473598.6:c.543_548del	ENSP00000421821.1:p.Arg181_Asn182del
ENST00000496738.5:n.185_190del
ENST00000515459.5:c.*514_*519del	ENSP00000424518.1:n.*514_*519del
ENST00000515824.1:n.201_206del
NM_001257374.2:c.504_509del	NP_001244303.1:p.Arg168_Asn169del
NM_001282624.1:c.597_602del	NP_001269553.1:p.Arg199_Asn200del
NM_001282625.1:c.840_845del	NP_001269554.1:p.Arg280_Asn281del
NM_001282626.1:c.840_845del	NP_001269555.1:p.Arg280_Asn281del
NM_005572.3:c.840_845del , LRG_254t1:c.840_845del	NP_005563.1:p.Arg280_Asn281del
NM_170707.3:c.840_845del	NP_733821.1:p.Arg280_Asn281del
NM_170708.3:c.840_845del	NP_733822.1:p.Arg280_Asn281del
XM_011509533.1:c.504_509del	XP_011507835.1:p.Arg168_Asn169del
XM_011509534.1:c.176_181del	XP_011507836.1:p.Gly59_Thr60del
XR_921781.1:n.1089_1094del
XM_011509534.2:c.176_181del	XP_011507836.1:p.Gly59_Thr60del
XR_921781.2:n.1087_1092del
NM_170707.4:c.840_845del MANE Select	NP_733821.1:p.Arg280_Asn281del
NM_001257374.3:c.504_509del	NP_001244303.1:p.Arg168_Asn169del
NM_001282626.2:c.840_845del	NP_001269555.1:p.Arg280_Asn281del
NM_001282624.2:c.597_602del	NP_001269553.1:p.Arg199_Asn200del
NM_001282625.2:c.840_845del	NP_001269554.1:p.Arg280_Asn281del
NM_005572.4:c.840_845del MANE Plus Clinical	NP_005563.1:p.Arg280_Asn281del
NM_170708.4:c.840_845del	NP_733822.1:p.Arg280_Asn281del