Canonical Allele Identifier: CA526670870

Gene: LMNA

Linked Data

• dbSNP Id: rs1419064689
• gnomAD v2: 1-156108441-A-ACGGTCACT
• gnomAD v4: 1-156138650-A-ACGGTCACT
• MyVariant Identifiers: chr1:g.156108441_156108442insCGGTCACT (hg19) ; chr1:g.156138650_156138651insCGGTCACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138653_156138660dup , CM000663.2:g.156138653_156138660dup	GRCh38
NC_000001.10:g.156108444_156108451dup , CM000663.1:g.156108444_156108451dup	GRCh37
NC_000001.9:g.154375068_154375075dup	NCBI36
NG_008692.2:g.61081_61088dup , LRG_254:g.61081_61088dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1306_1313dup	ENSP00000426535.3:p.Tyr440LeufsTer?
ENST00000682650.1:c.1774_1781dup	ENSP00000506904.1:p.Tyr596LeufsTer?
ENST00000683032.1:c.1864_1871dup	ENSP00000506771.1:p.Tyr626LeufsTer?
ENST00000683773.1:n.163+46_163+53dup
ENST00000684195.1:c.*956_*963dup	ENSP00000508220.1:n.*956_*963dup
ENST00000361308.9:c.1864_1871dup	ENSP00000355292.6:p.Tyr626LeufsTer?
ENST00000368300.9:c.1864_1871dup MANE Select	ENSP00000357283.4:p.Tyr626LeufsTer?
ENST00000674518.1:c.*1214_*1221dup	ENSP00000502261.1:n.*1214_*1221dup
ENST00000674600.1:c.*1663_*1670dup	ENSP00000501666.1:n.*1663_*1670dup
ENST00000675455.1:c.*1664_*1671dup	ENSP00000501795.1:n.*1664_*1671dup
ENST00000675667.1:c.1864_1871dup	ENSP00000501803.1:p.Tyr626LeufsTer?
ENST00000675874.1:c.*1335_*1342dup	ENSP00000501851.1:n.*1335_*1342dup
ENST00000675881.1:c.*875_*882dup	ENSP00000501670.1:n.*875_*882dup
ENST00000675939.1:c.1864_1871dup	ENSP00000502256.1:p.Tyr626LeufsTer?
ENST00000675989.1:n.3467_3474dup
ENST00000676208.1:c.*967_*974dup	ENSP00000502468.1:n.*967_*974dup
ENST00000676385.2:c.1774_1781dup	ENSP00000502091.1:p.Tyr596LeufsTer?
ENST00000676434.1:c.*1619_*1626dup	ENSP00000501648.1:n.*1619_*1626dup
ENST00000347559.6:c.1774_1781dup	ENSP00000292304.3:p.Tyr596LeufsTer?
ENST00000368299.7:c.1818+46_1818+53dup	ENSP00000357282.3:n.1818+46_1818+53dup
ENST00000368300.8:c.1864_1871dup	ENSP00000357283.4:p.Tyr626LeufsTer?
ENST00000448611.6:c.1528_1535dup	ENSP00000395597.2:p.Tyr514LeufsTer?
ENST00000473598.6:c.1567_1574dup	ENSP00000421821.1:p.Tyr527LeufsTer?
ENST00000496738.5:n.2077_2084dup
ENST00000506981.1:n.448_455dup
ENST00000508500.1:c.652_659dup	ENSP00000424977.1:p.Tyr222LeufsTer?
NM_001257374.2:c.1528_1535dup	NP_001244303.1:p.Tyr514LeufsTer?
NM_001282626.1:c.1818+46_1818+53dup	NP_001269555.1:n.1818+46_1818+53dup
NM_170707.3:c.1864_1871dup	NP_733821.1:p.Tyr626LeufsTer?
NM_170708.3:c.1774_1781dup	NP_733822.1:p.Tyr596LeufsTer?
XM_011509533.1:c.1528_1535dup	XP_011507835.1:p.Tyr514LeufsTer?
XM_011509534.1:c.1240_1247dup	XP_011507836.1:p.Tyr418LeufsTer?
XR_921781.1:n.2153_2160dup
XM_011509534.2:c.1240_1247dup	XP_011507836.1:p.Tyr418LeufsTer?
XR_921781.2:n.2151_2158dup
NM_170707.4:c.1864_1871dup MANE Select	NP_733821.1:p.Tyr626LeufsTer?
NM_001257374.3:c.1528_1535dup	NP_001244303.1:p.Tyr514LeufsTer?
NM_001282626.2:c.1818+46_1818+53dup	NP_001269555.1:n.1818+46_1818+53dup
NM_170708.4:c.1774_1781dup	NP_733822.1:p.Tyr596LeufsTer?