Canonical Allele Identifier: CA2739275348

Gene: LMNA

Linked Data

• ClinVar Variation Id: 2835518
• ClinVar RCV Id: RCV003744376

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138685dup , CM000663.2:g.156138685dup	GRCh38
NC_000001.10:g.156108476dup , CM000663.1:g.156108476dup	GRCh37
NC_000001.9:g.154375100dup	NCBI36
NG_008692.2:g.61113dup , LRG_254:g.61113dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1338dup	ENSP00000426535.3:p.Gly447TrpfsTer?
ENST00000682650.1:c.1806dup	ENSP00000506904.1:p.Gly603TrpfsTer?
ENST00000683032.1:c.1896dup	ENSP00000506771.1:p.Gly633TrpfsTer?
ENST00000683773.1:n.163+78dup
ENST00000684195.1:c.*988dup	ENSP00000508220.1:n.*988dup
ENST00000361308.9:c.1896dup	ENSP00000355292.6:p.Gly633TrpfsTer?
ENST00000368300.9:c.1896dup MANE Select	ENSP00000357283.4:p.Gly633TrpfsTer?
ENST00000674518.1:c.*1246dup	ENSP00000502261.1:n.*1246dup
ENST00000674600.1:c.*1695dup	ENSP00000501666.1:n.*1695dup
ENST00000675455.1:c.*1696dup	ENSP00000501795.1:n.*1696dup
ENST00000675667.1:c.1896dup	ENSP00000501803.1:p.Gly633TrpfsTer?
ENST00000675874.1:c.*1367dup	ENSP00000501851.1:n.*1367dup
ENST00000675881.1:c.*907dup	ENSP00000501670.1:n.*907dup
ENST00000675939.1:c.1896dup	ENSP00000502256.1:p.Gly633TrpfsTer?
ENST00000675989.1:n.3499dup
ENST00000676208.1:c.*999dup	ENSP00000502468.1:n.*999dup
ENST00000676385.2:c.1806dup	ENSP00000502091.1:p.Gly603TrpfsTer?
ENST00000676434.1:c.*1651dup	ENSP00000501648.1:n.*1651dup
ENST00000347559.6:c.1806dup	ENSP00000292304.3:p.Gly603TrpfsTer?
ENST00000368299.7:c.1818+78dup	ENSP00000357282.3:n.1818+78dup
ENST00000368300.8:c.1896dup	ENSP00000357283.4:p.Gly633TrpfsTer?
ENST00000448611.6:c.1560dup	ENSP00000395597.2:p.Gly521TrpfsTer?
ENST00000473598.6:c.1599dup	ENSP00000421821.1:p.Gly534TrpfsTer?
ENST00000496738.5:n.2109dup
ENST00000506981.1:n.480dup
ENST00000508500.1:c.684dup	ENSP00000424977.1:p.Gly229TrpfsTer?
NM_001257374.2:c.1560dup	NP_001244303.1:p.Gly521TrpfsTer?
NM_001282626.1:c.1818+78dup	NP_001269555.1:n.1818+78dup
NM_170707.3:c.1896dup	NP_733821.1:p.Gly633TrpfsTer?
NM_170708.3:c.1806dup	NP_733822.1:p.Gly603TrpfsTer?
XM_011509533.1:c.1560dup	XP_011507835.1:p.Gly521TrpfsTer?
XM_011509534.1:c.1272dup	XP_011507836.1:p.Gly425TrpfsTer?
XR_921781.1:n.2185dup
XM_011509534.2:c.1272dup	XP_011507836.1:p.Gly425TrpfsTer?
XR_921781.2:n.2183dup
NM_170707.4:c.1896dup MANE Select	NP_733821.1:p.Gly633TrpfsTer?
NM_001257374.3:c.1560dup	NP_001244303.1:p.Gly521TrpfsTer?
NM_001282626.2:c.1818+78dup	NP_001269555.1:n.1818+78dup
NM_170708.4:c.1806dup	NP_733822.1:p.Gly603TrpfsTer?