Canonical Allele Identifier: CA016535

Gene: LMNA

Linked Data

• ClinVar Variation Id: 66768
• ClinVar RCV Id: RCV000057224
• dbSNP Id: rs267607635
• MyVariant Identifiers: chr1:g.156105819_156105821del (hg19) ; chr1:g.156136028_156136030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136028_156136030del , CM000663.2:g.156136028_156136030del	GRCh38
NC_000001.10:g.156105819_156105821del , CM000663.1:g.156105819_156105821del	GRCh37
NC_000001.9:g.154372443_154372445del	NCBI36
NG_008692.2:g.58456_58458del , LRG_254:g.58456_58458del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.506_508del	ENSP00000426535.3:p.Gln169del
ENST00000498722.3:n.296_298del
ENST00000682650.1:c.1064_1066del	ENSP00000506904.1:p.Gln355del
ENST00000683032.1:c.1064_1066del	ENSP00000506771.1:p.Gln355del
ENST00000684195.1:c.1064_1066del	ENSP00000508220.1:p.Gln355del
ENST00000361308.9:c.1064_1066del	ENSP00000355292.6:p.Gln355del
ENST00000368300.9:c.1064_1066del MANE Select	ENSP00000357283.4:p.Gln355del
ENST00000496738.6:n.1439_1441del
ENST00000674518.1:c.*414_*416del	ENSP00000502261.1:n.*414_*416del
ENST00000674600.1:c.*863_*865del	ENSP00000501666.1:n.*863_*865del
ENST00000674720.1:c.1064_1066del	ENSP00000502798.1:p.Gln355del
ENST00000675431.1:n.757_759del
ENST00000675455.1:c.*864_*866del	ENSP00000501795.1:n.*864_*866del
ENST00000675667.1:c.1064_1066del	ENSP00000501803.1:p.Gln355del
ENST00000675874.1:c.*535_*537del	ENSP00000501851.1:n.*535_*537del
ENST00000675881.1:c.*75_*77del	ENSP00000501670.1:n.*75_*77del
ENST00000675939.1:c.1064_1066del	ENSP00000502256.1:p.Gln355del
ENST00000675989.1:n.1439_1441del
ENST00000676208.1:c.*75_*77del	ENSP00000502468.1:n.*75_*77del
ENST00000676283.1:n.1439_1441del
ENST00000676385.2:c.1064_1066del	ENSP00000502091.1:p.Gln355del
ENST00000676434.1:c.*75_*77del	ENSP00000501648.1:n.*75_*77del
ENST00000677389.1:c.1064_1066del MANE Plus Clinical	ENSP00000503633.1:p.Gln355del
ENST00000347559.6:c.1064_1066del	ENSP00000292304.3:p.Gln355del
ENST00000361308.8:c.1064_1066del	ENSP00000355292.5:p.Gln355del
ENST00000368297.5:c.821_823del	ENSP00000357280.1:p.Gln274del
ENST00000368298.2:n.328_330del
ENST00000368299.7:c.1064_1066del	ENSP00000357282.3:p.Gln355del
ENST00000368300.8:c.1064_1066del	ENSP00000357283.4:p.Gln355del
ENST00000368301.6:c.1064_1066del	ENSP00000357284.2:p.Gln355del
ENST00000448611.6:c.728_730del	ENSP00000395597.2:p.Gln243del
ENST00000473598.6:c.767_769del	ENSP00000421821.1:p.Gln256del
ENST00000496738.5:n.449_451del
ENST00000498722.2:n.296_298del
NM_001257374.2:c.728_730del	NP_001244303.1:p.Gln243del
NM_001282624.1:c.821_823del	NP_001269553.1:p.Gln274del
NM_001282625.1:c.1064_1066del	NP_001269554.1:p.Gln355del
NM_001282626.1:c.1064_1066del	NP_001269555.1:p.Gln355del
NM_005572.3:c.1064_1066del , LRG_254t1:c.1064_1066del	NP_005563.1:p.Gln355del
NM_170707.3:c.1064_1066del	NP_733821.1:p.Gln355del
NM_170708.3:c.1064_1066del	NP_733822.1:p.Gln355del
XM_011509533.1:c.728_730del	XP_011507835.1:p.Gln243del
XM_011509534.1:c.440_442del	XP_011507836.1:p.Gln147del
XR_921781.1:n.1353_1355del
XM_011509534.2:c.440_442del	XP_011507836.1:p.Gln147del
XR_921781.2:n.1351_1353del
NM_170707.4:c.1064_1066del MANE Select	NP_733821.1:p.Gln355del
NM_001257374.3:c.728_730del	NP_001244303.1:p.Gln243del
NM_001282626.2:c.1064_1066del	NP_001269555.1:p.Gln355del
NM_001282624.2:c.821_823del	NP_001269553.1:p.Gln274del
NM_001282625.2:c.1064_1066del	NP_001269554.1:p.Gln355del
NM_005572.4:c.1064_1066del MANE Plus Clinical	NP_005563.1:p.Gln355del
NM_170708.4:c.1064_1066del	NP_733822.1:p.Gln355del