Canonical Allele Identifier: CA016966

Gene: LMNA

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136356_156136363del , CM000663.2:g.156136356_156136363del	GRCh38
NC_000001.10:g.156106147_156106154del , CM000663.1:g.156106147_156106154del	GRCh37
NC_000001.9:g.154372771_154372778del	NCBI36
NG_008692.2:g.58784_58791del , LRG_254:g.58784_58791del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.742_749del	ENSP00000426535.3:p.Ala248Ter
ENST00000459904.2:n.64_71del
ENST00000498722.3:n.532_539del
ENST00000682650.1:c.1300_1307del	ENSP00000506904.1:p.Ala434Ter
ENST00000683032.1:c.1300_1307del	ENSP00000506771.1:p.Ala434Ter
ENST00000684195.1:c.1300_1307del	ENSP00000508220.1:p.Ala434Ter
ENST00000361308.9:c.1300_1307del	ENSP00000355292.6:p.Ala434Ter
ENST00000368300.9:c.1300_1307del MANE Select	ENSP00000357283.4:p.Ala434Ter
ENST00000496738.6:n.1675_1682del
ENST00000674518.1:c.*650_*657del	ENSP00000502261.1:n.*650_*657del
ENST00000674600.1:c.*1099_*1106del	ENSP00000501666.1:n.*1099_*1106del
ENST00000674720.1:c.1300_1307del	ENSP00000502798.1:p.Ala434Ter
ENST00000675431.1:n.993_1000del
ENST00000675455.1:c.*1100_*1107del	ENSP00000501795.1:n.*1100_*1107del
ENST00000675667.1:c.1300_1307del	ENSP00000501803.1:p.Ala434Ter
ENST00000675874.1:c.*771_*778del	ENSP00000501851.1:n.*771_*778del
ENST00000675881.1:c.*311_*318del	ENSP00000501670.1:n.*311_*318del
ENST00000675939.1:c.1300_1307del	ENSP00000502256.1:p.Ala434Ter
ENST00000675989.1:n.1675_1682del
ENST00000676208.1:c.*403_*410del	ENSP00000502468.1:n.*403_*410del
ENST00000676283.1:n.1675_1682del
ENST00000676385.2:c.1300_1307del	ENSP00000502091.1:p.Ala434Ter
ENST00000676434.1:c.*311_*318del	ENSP00000501648.1:n.*311_*318del
ENST00000677389.1:c.1300_1307del MANE Plus Clinical	ENSP00000503633.1:p.Ala434Ter
ENST00000347559.6:c.1300_1307del	ENSP00000292304.3:p.Ala434Ter
ENST00000361308.8:c.1300_1307del	ENSP00000355292.5:p.Ala434Ter
ENST00000368297.5:c.1057_1064del	ENSP00000357280.1:p.Ala353Ter
ENST00000368298.2:n.564_571del
ENST00000368299.7:c.1300_1307del	ENSP00000357282.3:p.Ala434Ter
ENST00000368300.8:c.1300_1307del	ENSP00000357283.4:p.Ala434Ter
ENST00000368301.6:c.1300_1307del	ENSP00000357284.2:p.Ala434Ter
ENST00000448611.6:c.964_971del	ENSP00000395597.2:p.Ala322Ter
ENST00000459904.1:n.64_71del
ENST00000473598.6:c.1003_1010del	ENSP00000421821.1:p.Ala335Ter
ENST00000496738.5:n.685_692del
ENST00000498722.2:n.532_539del
ENST00000508500.1:c.178_185del	ENSP00000424977.1:p.Ala60Ter
NM_001257374.2:c.964_971del	NP_001244303.1:p.Ala322Ter
NM_001282624.1:c.1057_1064del	NP_001269553.1:p.Ala353Ter
NM_001282625.1:c.1300_1307del	NP_001269554.1:p.Ala434Ter
NM_001282626.1:c.1300_1307del	NP_001269555.1:p.Ala434Ter
NM_005572.3:c.1300_1307del , LRG_254t1:c.1300_1307del	NP_005563.1:p.Ala434Ter
NM_170707.3:c.1300_1307del	NP_733821.1:p.Ala434Ter
NM_170708.3:c.1300_1307del	NP_733822.1:p.Ala434Ter
XM_011509533.1:c.964_971del	XP_011507835.1:p.Ala322Ter
XM_011509534.1:c.676_683del	XP_011507836.1:p.Ala226Ter
XR_921781.1:n.1589_1596del
XM_011509534.2:c.676_683del	XP_011507836.1:p.Ala226Ter
XR_921781.2:n.1587_1594del
NM_170707.4:c.1300_1307del MANE Select	NP_733821.1:p.Ala434Ter
NM_001257374.3:c.964_971del	NP_001244303.1:p.Ala322Ter
NM_001282626.2:c.1300_1307del	NP_001269555.1:p.Ala434Ter
NM_001282624.2:c.1057_1064del	NP_001269553.1:p.Ala353Ter
NM_001282625.2:c.1300_1307del	NP_001269554.1:p.Ala434Ter
NM_005572.4:c.1300_1307del MANE Plus Clinical	NP_005563.1:p.Ala434Ter
NM_170708.4:c.1300_1307del	NP_733822.1:p.Ala434Ter