Canonical Allele Identifier: CA891842720

Gene: LMNA

Linked Data

• ClinVar Variation Id: 581796
• ClinVar RCV Id: RCV000705726
• dbSNP Id: rs1558133435

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137211_156137212delinsCT , CM000663.2:g.156137211_156137212delinsCT	GRCh38
NC_000001.10:g.156107002_156107003delinsCT , CM000663.1:g.156107002_156107003delinsCT	GRCh37
NC_000001.9:g.154373626_154373627delinsCT	NCBI36
NG_008692.2:g.59639_59640delinsCT , LRG_254:g.59639_59640delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1029_1030delinsCT	ENSP00000426535.3:p.Leu344Phe
ENST00000459904.2:n.835_836delinsCT
ENST00000498722.3:n.819_820delinsCT
ENST00000682650.1:c.1587_1588delinsCT	ENSP00000506904.1:p.Leu530Phe
ENST00000683032.1:c.1587_1588delinsCT	ENSP00000506771.1:p.Leu530Phe
ENST00000684195.1:c.1579+8_1579+9delinsCT	ENSP00000508220.1:n.1579+8_1579+9delinsCT
ENST00000361308.9:c.1587_1588delinsCT	ENSP00000355292.6:p.Leu530Phe
ENST00000368300.9:c.1587_1588delinsCT MANE Select	ENSP00000357283.4:p.Leu530Phe
ENST00000496738.6:n.2046_2047delinsCT
ENST00000674518.1:c.*937_*938delinsCT	ENSP00000502261.1:n.*937_*938delinsCT
ENST00000674600.1:c.*1386_*1387delinsCT	ENSP00000501666.1:n.*1386_*1387delinsCT
ENST00000674720.1:c.*149_*150delinsCT	ENSP00000502798.1:n.*149_*150delinsCT
ENST00000675431.1:n.1280_1281delinsCT
ENST00000675455.1:c.*1387_*1388delinsCT	ENSP00000501795.1:n.*1387_*1388delinsCT
ENST00000675667.1:c.1587_1588delinsCT	ENSP00000501803.1:p.Leu530Phe
ENST00000675874.1:c.*1058_*1059delinsCT	ENSP00000501851.1:n.*1058_*1059delinsCT
ENST00000675881.1:c.*598_*599delinsCT	ENSP00000501670.1:n.*598_*599delinsCT
ENST00000675939.1:c.1587_1588delinsCT	ENSP00000502256.1:p.Leu530Phe
ENST00000675989.1:n.2446_2447delinsCT
ENST00000676208.1:c.*690_*691delinsCT	ENSP00000502468.1:n.*690_*691delinsCT
ENST00000676283.1:n.1962_1963delinsCT
ENST00000676385.2:c.1587_1588delinsCT	ENSP00000502091.1:p.Leu530Phe
ENST00000676434.1:c.*598_*599delinsCT	ENSP00000501648.1:n.*598_*599delinsCT
ENST00000677389.1:c.1587_1588delinsCT MANE Plus Clinical	ENSP00000503633.1:p.Leu530Phe
ENST00000347559.6:c.1587_1588delinsCT	ENSP00000292304.3:p.Leu530Phe
ENST00000361308.8:c.1332_1333delinsCT	ENSP00000355292.5:p.Leu445Phe
ENST00000368297.5:c.1344_1345delinsCT	ENSP00000357280.1:p.Leu449Phe
ENST00000368298.2:n.1419_1420delinsCT
ENST00000368299.7:c.1587_1588delinsCT	ENSP00000357282.3:p.Leu530Phe
ENST00000368300.8:c.1587_1588delinsCT	ENSP00000357283.4:p.Leu530Phe
ENST00000368301.6:c.1587_1588delinsCT	ENSP00000357284.2:p.Leu530Phe
ENST00000448611.6:c.1251_1252delinsCT	ENSP00000395597.2:p.Leu418Phe
ENST00000459904.1:n.835_836delinsCT
ENST00000473598.6:c.1290_1291delinsCT	ENSP00000421821.1:p.Leu431Phe
ENST00000496738.5:n.1056_1057delinsCT
ENST00000498722.2:n.819_820delinsCT
ENST00000508500.1:c.465_466delinsCT	ENSP00000424977.1:p.Leu156Phe
NM_001257374.2:c.1251_1252delinsCT	NP_001244303.1:p.Leu418Phe
NM_001282624.1:c.1344_1345delinsCT	NP_001269553.1:p.Leu449Phe
NM_001282625.1:c.1587_1588delinsCT	NP_001269554.1:p.Leu530Phe
NM_001282626.1:c.1587_1588delinsCT	NP_001269555.1:p.Leu530Phe
NM_005572.3:c.1587_1588delinsCT , LRG_254t1:c.1587_1588delinsCT	NP_005563.1:p.Leu530Phe
NM_170707.3:c.1587_1588delinsCT	NP_733821.1:p.Leu530Phe
NM_170708.3:c.1587_1588delinsCT	NP_733822.1:p.Leu530Phe
XM_011509533.1:c.1251_1252delinsCT	XP_011507835.1:p.Leu418Phe
XM_011509534.1:c.963_964delinsCT	XP_011507836.1:p.Leu322Phe
XR_921781.1:n.1876_1877delinsCT
XM_011509534.2:c.963_964delinsCT	XP_011507836.1:p.Leu322Phe
XR_921781.2:n.1874_1875delinsCT
NM_170707.4:c.1587_1588delinsCT MANE Select	NP_733821.1:p.Leu530Phe
NM_001257374.3:c.1251_1252delinsCT	NP_001244303.1:p.Leu418Phe
NM_001282626.2:c.1587_1588delinsCT	NP_001269555.1:p.Leu530Phe
NM_001282624.2:c.1344_1345delinsCT	NP_001269553.1:p.Leu449Phe
NM_001282625.2:c.1587_1588delinsCT	NP_001269554.1:p.Leu530Phe
NM_005572.4:c.1587_1588delinsCT MANE Plus Clinical	NP_005563.1:p.Leu530Phe
NM_170708.4:c.1587_1588delinsCT	NP_733822.1:p.Leu530Phe