Canonical Allele Identifier: CA645372475

Gene: LMNA

Linked Data

• ClinVar Variation Id: 435778
• ClinVar RCV Id: RCV000503663 ; RCV002281642
• dbSNP Id: rs1553265761
• MyVariant Identifiers: chr1:g.156105908_156105910del (hg19) ; chr1:g.156136117_156136119del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136117_156136119del , CM000663.2:g.156136117_156136119del	GRCh38
NC_000001.10:g.156105908_156105910del , CM000663.1:g.156105908_156105910del	GRCh37
NC_000001.9:g.154372532_154372534del	NCBI36
NG_008692.2:g.58545_58547del , LRG_254:g.58545_58547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.595_597del	ENSP00000426535.3:p.Glu199del
ENST00000498722.3:n.385_387del
ENST00000682650.1:c.1153_1155del	ENSP00000506904.1:p.Glu385del
ENST00000683032.1:c.1153_1155del	ENSP00000506771.1:p.Glu385del
ENST00000684195.1:c.1153_1155del	ENSP00000508220.1:p.Glu385del
ENST00000361308.9:c.1153_1155del	ENSP00000355292.6:p.Glu385del
ENST00000368300.9:c.1153_1155del MANE Select	ENSP00000357283.4:p.Glu385del
ENST00000496738.6:n.1528_1530del
ENST00000674518.1:c.*503_*505del	ENSP00000502261.1:n.*503_*505del
ENST00000674600.1:c.*952_*954del	ENSP00000501666.1:n.*952_*954del
ENST00000674720.1:c.1153_1155del	ENSP00000502798.1:p.Glu385del
ENST00000675431.1:n.846_848del
ENST00000675455.1:c.*953_*955del	ENSP00000501795.1:n.*953_*955del
ENST00000675667.1:c.1153_1155del	ENSP00000501803.1:p.Glu385del
ENST00000675874.1:c.*624_*626del	ENSP00000501851.1:n.*624_*626del
ENST00000675881.1:c.*164_*166del	ENSP00000501670.1:n.*164_*166del
ENST00000675939.1:c.1153_1155del	ENSP00000502256.1:p.Glu385del
ENST00000675989.1:n.1528_1530del
ENST00000676208.1:c.*164_*166del	ENSP00000502468.1:n.*164_*166del
ENST00000676283.1:n.1528_1530del
ENST00000676385.2:c.1153_1155del	ENSP00000502091.1:p.Glu385del
ENST00000676434.1:c.*164_*166del	ENSP00000501648.1:n.*164_*166del
ENST00000677389.1:c.1153_1155del MANE Plus Clinical	ENSP00000503633.1:p.Glu385del
ENST00000347559.6:c.1153_1155del	ENSP00000292304.3:p.Glu385del
ENST00000361308.8:c.1153_1155del	ENSP00000355292.5:p.Glu385del
ENST00000368297.5:c.910_912del	ENSP00000357280.1:p.Glu304del
ENST00000368298.2:n.417_419del
ENST00000368299.7:c.1153_1155del	ENSP00000357282.3:p.Glu385del
ENST00000368300.8:c.1153_1155del	ENSP00000357283.4:p.Glu385del
ENST00000368301.6:c.1153_1155del	ENSP00000357284.2:p.Glu385del
ENST00000448611.6:c.817_819del	ENSP00000395597.2:p.Glu273del
ENST00000473598.6:c.856_858del	ENSP00000421821.1:p.Glu286del
ENST00000496738.5:n.538_540del
ENST00000498722.2:n.385_387del
ENST00000508500.1:c.31_33del	ENSP00000424977.1:p.Glu11del
NM_001257374.2:c.817_819del	NP_001244303.1:p.Glu273del
NM_001282624.1:c.910_912del	NP_001269553.1:p.Glu304del
NM_001282625.1:c.1153_1155del	NP_001269554.1:p.Glu385del
NM_001282626.1:c.1153_1155del	NP_001269555.1:p.Glu385del
NM_005572.3:c.1153_1155del , LRG_254t1:c.1153_1155del	NP_005563.1:p.Glu385del
NM_170707.3:c.1153_1155del	NP_733821.1:p.Glu385del
NM_170708.3:c.1153_1155del	NP_733822.1:p.Glu385del
XM_011509533.1:c.817_819del	XP_011507835.1:p.Glu273del
XM_011509534.1:c.529_531del	XP_011507836.1:p.Glu177del
XR_921781.1:n.1442_1444del
XM_011509534.2:c.529_531del	XP_011507836.1:p.Glu177del
XR_921781.2:n.1440_1442del
NM_170707.4:c.1153_1155del MANE Select	NP_733821.1:p.Glu385del
NM_001257374.3:c.817_819del	NP_001244303.1:p.Glu273del
NM_001282626.2:c.1153_1155del	NP_001269555.1:p.Glu385del
NM_001282624.2:c.910_912del	NP_001269553.1:p.Glu304del
NM_001282625.2:c.1153_1155del	NP_001269554.1:p.Glu385del
NM_005572.4:c.1153_1155del MANE Plus Clinical	NP_005563.1:p.Glu385del
NM_170708.4:c.1153_1155del	NP_733822.1:p.Glu385del