Canonical Allele Identifier: CA347048

Gene: LMNA

Linked Data

• ClinVar Variation Id: 162410
• ClinVar RCV Id: RCV000192013
• dbSNP Id: rs1553266460
• MyVariant Identifiers: chr1:g.156108279_156108548del (hg19) ; chr1:g.156138488_156138757del (hg38)
• PubMed: PMID:15317753 ; PMID:20301300

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138489_156138758del , CM000663.2:g.156138489_156138758del	GRCh38
NC_000001.10:g.156108280_156108549del , CM000663.1:g.156108280_156108549del	GRCh37
NC_000001.9:g.154374904_154375173del	NCBI36
NG_008692.2:g.60917_61186del , LRG_254:g.60917_61186del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1142_1410+1del
ENST00000682650.1:c.1610_1878+1del
ENST00000683032.1:c.1700_1968+1del
ENST00000683773.1:n.45_163+151del
ENST00000684195.1:c.*792_*1060+1del
ENST00000361308.9:c.1700_1968+1del
ENST00000368300.9:c.1700_1968+1del
ENST00000674518.1:c.*1050_*1318+1del
ENST00000674600.1:c.*1499_*1767+1del
ENST00000675455.1:c.*1500_*1768+1del
ENST00000675667.1:c.1700_1969del
ENST00000675874.1:c.*1171_*1439+1del
ENST00000675881.1:c.*711_*979+1del
ENST00000675939.1:c.1700_1968+1del
ENST00000675989.1:n.3303_3571+1del
ENST00000676208.1:c.*803_*1071+1del
ENST00000676385.2:c.1610_1878+1del
ENST00000676434.1:c.*1455_*1724del	ENSP00000501648.1:n.*1455_*1724del
ENST00000347559.6:c.1610_1878+1del
ENST00000368299.7:c.1700_1818+151del
ENST00000368300.8:c.1700_1968+1del
ENST00000448611.6:c.1364_1632+1del
ENST00000473598.6:c.1403_1671+1del
ENST00000496738.5:n.1913_2181+1del
ENST00000506981.1:n.284_552+1del
ENST00000508500.1:c.488_756+1del
NM_001257374.2:c.1364_1632+1del
NM_001282626.1:c.1700_1818+151del
NM_170707.3:c.1700_1968+1del
NM_170708.3:c.1610_1878+1del
XM_011509533.1:c.1364_1632+1del
XM_011509534.1:c.1076_1344+1del
XR_921781.1:n.1989_2257+1del
XM_011509534.2:c.1076_1344+1del
XR_921781.2:n.1987_2255+1del
NM_170707.4:c.1700_1968+1del
NM_001257374.3:c.1364_1632+1del
NM_001282626.2:c.1700_1818+151del
NM_170708.4:c.1610_1878+1del