Canonical Allele Identifier: CA1200473531

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138662_156138663delinsAG , CM000663.2:g.156138662_156138663delinsAG	GRCh38
NC_000001.10:g.156108453_156108454delinsAG , CM000663.1:g.156108453_156108454delinsAG	GRCh37
NC_000001.9:g.154375077_154375078delinsAG	NCBI36
NG_008692.2:g.61090_61091delinsAG , LRG_254:g.61090_61091delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1315_1316delinsAG	ENSP00000426535.3:p.Ser439=
ENST00000682650.1:c.1783_1784delinsAG	ENSP00000506904.1:p.Ser595=
ENST00000683032.1:c.1873_1874delinsAG	ENSP00000506771.1:p.Ser625=
ENST00000683773.1:n.163+55_163+56delinsAG
ENST00000684195.1:c.*965_*966delinsAG	ENSP00000508220.1:n.*965_*966delinsAG
ENST00000361308.9:c.1873_1874delinsAG	ENSP00000355292.6:p.Ser625=
ENST00000368300.9:c.1873_1874delinsAG MANE Select	ENSP00000357283.4:p.Ser625=
ENST00000674518.1:c.*1223_*1224delinsAG	ENSP00000502261.1:n.*1223_*1224delinsAG
ENST00000674600.1:c.*1672_*1673delinsAG	ENSP00000501666.1:n.*1672_*1673delinsAG
ENST00000675455.1:c.*1673_*1674delinsAG	ENSP00000501795.1:n.*1673_*1674delinsAG
ENST00000675667.1:c.1873_1874delinsAG	ENSP00000501803.1:p.Ser625=
ENST00000675874.1:c.*1344_*1345delinsAG	ENSP00000501851.1:n.*1344_*1345delinsAG
ENST00000675881.1:c.*884_*885delinsAG	ENSP00000501670.1:n.*884_*885delinsAG
ENST00000675939.1:c.1873_1874delinsAG	ENSP00000502256.1:p.Ser625=
ENST00000675989.1:n.3476_3477delinsAG
ENST00000676208.1:c.*976_*977delinsAG	ENSP00000502468.1:n.*976_*977delinsAG
ENST00000676385.2:c.1783_1784delinsAG	ENSP00000502091.1:p.Ser595=
ENST00000676434.1:c.*1628_*1629delinsAG	ENSP00000501648.1:n.*1628_*1629delinsAG
ENST00000347559.6:c.1783_1784delinsAG	ENSP00000292304.3:p.Ser595=
ENST00000368299.7:c.1818+55_1818+56delinsAG	ENSP00000357282.3:n.1818+55_1818+56delins...
ENST00000368300.8:c.1873_1874delinsAG	ENSP00000357283.4:p.Ser625=
ENST00000448611.6:c.1537_1538delinsAG	ENSP00000395597.2:p.Ser513=
ENST00000473598.6:c.1576_1577delinsAG	ENSP00000421821.1:p.Ser526=
ENST00000496738.5:n.2086_2087delinsAG
ENST00000506981.1:n.457_458delinsAG
ENST00000508500.1:c.661_662delinsAG	ENSP00000424977.1:p.Ser221=
NM_001257374.2:c.1537_1538delinsAG	NP_001244303.1:p.Ser513=
NM_001282626.1:c.1818+55_1818+56delinsAG	NP_001269555.1:n.1818+55_1818+56delinsAG
NM_170707.3:c.1873_1874delinsAG	NP_733821.1:p.Ser625=
NM_170708.3:c.1783_1784delinsAG	NP_733822.1:p.Ser595=
XM_011509533.1:c.1537_1538delinsAG	XP_011507835.1:p.Ser513=
XM_011509534.1:c.1249_1250delinsAG	XP_011507836.1:p.Ser417=
XR_921781.1:n.2162_2163delinsAG
XM_011509534.2:c.1249_1250delinsAG	XP_011507836.1:p.Ser417=
XR_921781.2:n.2160_2161delinsAG
NM_170707.4:c.1873_1874delinsAG MANE Select	NP_733821.1:p.Ser625=
NM_001257374.3:c.1537_1538delinsAG	NP_001244303.1:p.Ser513=
NM_001282626.2:c.1818+55_1818+56delinsAG	NP_001269555.1:n.1818+55_1818+56delinsAG
NM_170708.4:c.1783_1784delinsAG	NP_733822.1:p.Ser595=