Canonical Allele Identifier: CA915941469

Gene: LMNA

Linked Data

• ClinVar Variation Id: 704593
• ClinVar RCV Id: RCV001409456 ; RCV004027848 ; RCV001179741
• dbSNP Id: rs1572369030
• gnomAD v4: 1-156138477-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138479_156138480del , CM000663.2:g.156138479_156138480del	GRCh38
NC_000001.10:g.156108270_156108271del , CM000663.1:g.156108270_156108271del	GRCh37
NC_000001.9:g.154374894_154374895del	NCBI36
NG_008692.2:g.60907_60908del , LRG_254:g.60907_60908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1141-9_1141-8del	ENSP00000426535.3:n.1141-9_1141-8del
ENST00000682650.1:c.1609-9_1609-8del	ENSP00000506904.1:n.1609-9_1609-8del
ENST00000683032.1:c.1699-9_1699-8del	ENSP00000506771.1:n.1699-9_1699-8del
ENST00000683773.1:n.44-9_44-8del
ENST00000684195.1:c.*782_*783del	ENSP00000508220.1:n.*782_*783del
ENST00000361308.9:c.1699-9_1699-8del	ENSP00000355292.6:n.1699-9_1699-8del
ENST00000368300.9:c.1699-9_1699-8del MANE Select	ENSP00000357283.4:n.1699-9_1699-8del
ENST00000496738.6:n.2893_2894del
ENST00000674518.1:c.*1049-9_*1049-8del	ENSP00000502261.1:n.*1049-9_*1049-8del
ENST00000674600.1:c.*1498-9_*1498-8del	ENSP00000501666.1:n.*1498-9_*1498-8del
ENST00000674720.1:c.*996_*997del	ENSP00000502798.1:n.*996_*997del
ENST00000675455.1:c.*1499-9_*1499-8del	ENSP00000501795.1:n.*1499-9_*1499-8del
ENST00000675667.1:c.1699-9_1699-8del	ENSP00000501803.1:n.1699-9_1699-8del
ENST00000675874.1:c.*1170-9_*1170-8del	ENSP00000501851.1:n.*1170-9_*1170-8del
ENST00000675881.1:c.*710-9_*710-8del	ENSP00000501670.1:n.*710-9_*710-8del
ENST00000675939.1:c.1699-9_1699-8del	ENSP00000502256.1:n.1699-9_1699-8del
ENST00000675989.1:n.3293_3294del
ENST00000676208.1:c.*802-9_*802-8del	ENSP00000502468.1:n.*802-9_*802-8del
ENST00000676283.1:n.3230_3231del
ENST00000676385.2:c.1609-9_1609-8del	ENSP00000502091.1:n.1609-9_1609-8del
ENST00000676434.1:c.*1445_*1446del	ENSP00000501648.1:n.*1445_*1446del
ENST00000347559.6:c.1609-9_1609-8del	ENSP00000292304.3:n.1609-9_1609-8del
ENST00000368299.7:c.1699-9_1699-8del	ENSP00000357282.3:n.1699-9_1699-8del
ENST00000368300.8:c.1699-9_1699-8del	ENSP00000357283.4:n.1699-9_1699-8del
ENST00000448611.6:c.1363-9_1363-8del	ENSP00000395597.2:n.1363-9_1363-8del
ENST00000473598.6:c.1402-9_1402-8del	ENSP00000421821.1:n.1402-9_1402-8del
ENST00000496738.5:n.1903_1904del
ENST00000506981.1:n.283-9_283-8del
ENST00000508500.1:c.487-9_487-8del	ENSP00000424977.1:n.487-9_487-8del
NM_001257374.2:c.1363-9_1363-8del	NP_001244303.1:n.1363-9_1363-8del
NM_001282626.1:c.1699-9_1699-8del	NP_001269555.1:n.1699-9_1699-8del
NM_170707.3:c.1699-9_1699-8del	NP_733821.1:n.1699-9_1699-8del
NM_170708.3:c.1609-9_1609-8del	NP_733822.1:n.1609-9_1609-8del
XM_011509533.1:c.1363-9_1363-8del	XP_011507835.1:n.1363-9_1363-8del
XM_011509534.1:c.1075-9_1075-8del	XP_011507836.1:n.1075-9_1075-8del
XR_921781.1:n.1988-9_1988-8del
XM_011509534.2:c.1075-9_1075-8del	XP_011507836.1:n.1075-9_1075-8del
XR_921781.2:n.1986-9_1986-8del
NM_170707.4:c.1699-9_1699-8del MANE Select	NP_733821.1:n.1699-9_1699-8del
NM_001257374.3:c.1363-9_1363-8del	NP_001244303.1:n.1363-9_1363-8del
NM_001282626.2:c.1699-9_1699-8del	NP_001269555.1:n.1699-9_1699-8del
NM_170708.4:c.1609-9_1609-8del	NP_733822.1:n.1609-9_1609-8del