Canonical Allele Identifier: CA658795534

Gene: LMNA

Linked Data

• ClinVar Variation Id: 496992
• ClinVar RCV Id: RCV000599189 ; RCV001231259
• dbSNP Id: rs1553265755
• MyVariant Identifiers: chr1:g.156105897_156105913del (hg19) ; chr1:g.156136106_156136122del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136106_156136122del , CM000663.2:g.156136106_156136122del	GRCh38
NC_000001.10:g.156105897_156105913del , CM000663.1:g.156105897_156105913del	GRCh37
NC_000001.9:g.154372521_154372537del	NCBI36
NG_008692.2:g.58534_58550del , LRG_254:g.58534_58550del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.584_599+1del
ENST00000498722.3:n.374_389+1del
ENST00000682650.1:c.1142_1157+1del
ENST00000683032.1:c.1142_1157+1del
ENST00000684195.1:c.1142_1157+1del
ENST00000361308.9:c.1142_1157+1del
ENST00000368300.9:c.1142_1157+1del
ENST00000496738.6:n.1517_1532+1del
ENST00000674518.1:c.*492_*507+1del
ENST00000674600.1:c.*941_*956+1del
ENST00000674720.1:c.1142_1157+1del
ENST00000675431.1:n.835_850+1del
ENST00000675455.1:c.*942_*957+1del
ENST00000675667.1:c.1142_1157+1del
ENST00000675874.1:c.*613_*628+1del
ENST00000675881.1:c.*153_*168+1del
ENST00000675939.1:c.1142_1157+1del
ENST00000675989.1:n.1517_1532+1del
ENST00000676208.1:c.*153_*169del	ENSP00000502468.1:n.*153_*169del
ENST00000676283.1:n.1517_1532+1del
ENST00000676385.2:c.1142_1157+1del
ENST00000676434.1:c.*153_*168+1del
ENST00000677389.1:c.1142_1157+1del
ENST00000347559.6:c.1142_1157+1del
ENST00000361308.8:c.1142_1157+1del
ENST00000368297.5:c.899_914+1del
ENST00000368298.2:n.406_421+1del
ENST00000368299.7:c.1142_1157+1del
ENST00000368300.8:c.1142_1157+1del
ENST00000368301.6:c.1142_1157+1del
ENST00000448611.6:c.806_821+1del
ENST00000473598.6:c.845_860+1del
ENST00000496738.5:n.527_542+1del
ENST00000498722.2:n.374_389+1del
ENST00000508500.1:c.20_35+1del
NM_001257374.2:c.806_821+1del
NM_001282624.1:c.899_914+1del
NM_001282625.1:c.1142_1157+1del
NM_001282626.1:c.1142_1157+1del
NM_005572.3:c.1142_1157+1del , LRG_254t1:c.1142_1157+1del
NM_170707.3:c.1142_1157+1del
NM_170708.3:c.1142_1157+1del
XM_011509533.1:c.806_821+1del
XM_011509534.1:c.518_533+1del
XR_921781.1:n.1431_1446+1del
XM_011509534.2:c.518_533+1del
XR_921781.2:n.1429_1444+1del
NM_170707.4:c.1142_1157+1del
NM_001257374.3:c.806_821+1del
NM_001282626.2:c.1142_1157+1del
NM_001282624.2:c.899_914+1del
NM_001282625.2:c.1142_1157+1del
NM_005572.4:c.1142_1157+1del
NM_170708.4:c.1142_1157+1del