Canonical Allele Identifier: CA2697554576

Gene: LMNA

Linked Data

• ClinVar Variation Id: 2692543
• ClinVar RCV Id: RCV003542577

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138758del , CM000663.2:g.156138758del	GRCh38
NC_000001.10:g.156108549del , CM000663.1:g.156108549del	GRCh37
NC_000001.9:g.154375173del	NCBI36
NG_008692.2:g.61186del , LRG_254:g.61186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1410+1del
ENST00000682650.1:c.1878+1del
ENST00000683032.1:c.1968+1del
ENST00000683773.1:n.163+151del
ENST00000684195.1:c.*1060+1del
ENST00000361308.9:c.1968+1del
ENST00000368300.9:c.1968+1del
ENST00000674518.1:c.*1318+1del
ENST00000674600.1:c.*1767+1del
ENST00000675455.1:c.*1768+1del
ENST00000675667.1:c.1969del	ENSP00000501803.1:p.Val657Ter
ENST00000675874.1:c.*1439+1del
ENST00000675881.1:c.*979+1del
ENST00000675939.1:c.1968+1del
ENST00000675989.1:n.3571+1del
ENST00000676208.1:c.*1071+1del
ENST00000676385.2:c.1878+1del
ENST00000676434.1:c.*1724del	ENSP00000501648.1:n.*1724del
ENST00000347559.6:c.1878+1del
ENST00000368299.7:c.1818+151del	ENSP00000357282.3:n.1818+151del
ENST00000368300.8:c.1968+1del
ENST00000448611.6:c.1632+1del
ENST00000473598.6:c.1671+1del
ENST00000496738.5:n.2181+1del
ENST00000506981.1:n.552+1del
ENST00000508500.1:c.756+1del
NM_001257374.2:c.1632+1del
NM_001282626.1:c.1818+151del	NP_001269555.1:n.1818+151del
NM_170707.3:c.1968+1del
NM_170708.3:c.1878+1del
XM_011509533.1:c.1632+1del
XM_011509534.1:c.1344+1del
XR_921781.1:n.2257+1del
XM_011509534.2:c.1344+1del
XR_921781.2:n.2255+1del
NM_170707.4:c.1968+1del
NM_001257374.3:c.1632+1del
NM_001282626.2:c.1818+151del	NP_001269555.1:n.1818+151del
NM_170708.4:c.1878+1del