Canonical Allele Identifier: CA2648349251

Gene: LMNA

Linked Data

• gnomAD v4: 1-156136085-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136085_156136086insAG , CM000663.2:g.156136085_156136086insAG	GRCh38
NC_000001.10:g.156105876_156105877insAG , CM000663.1:g.156105876_156105877insAG	GRCh37
NC_000001.9:g.154372500_154372501insAG	NCBI36
NG_008692.2:g.58513_58514insAG , LRG_254:g.58513_58514insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.563_564insAG	ENSP00000426535.3:p.His188GlnfsTer?
ENST00000498722.3:n.353_354insAG
ENST00000682650.1:c.1121_1122insAG	ENSP00000506904.1:p.His374GlnfsTer?
ENST00000683032.1:c.1121_1122insAG	ENSP00000506771.1:p.His374GlnfsTer?
ENST00000684195.1:c.1121_1122insAG	ENSP00000508220.1:p.His374GlnfsTer?
ENST00000361308.9:c.1121_1122insAG	ENSP00000355292.6:p.His374GlnfsTer?
ENST00000368300.9:c.1121_1122insAG MANE Select	ENSP00000357283.4:p.His374GlnfsTer?
ENST00000496738.6:n.1496_1497insAG
ENST00000674518.1:c.*471_*472insAG	ENSP00000502261.1:n.*471_*472insAG
ENST00000674600.1:c.*920_*921insAG	ENSP00000501666.1:n.*920_*921insAG
ENST00000674720.1:c.1121_1122insAG	ENSP00000502798.1:p.His374GlnfsTer?
ENST00000675431.1:n.814_815insAG
ENST00000675455.1:c.*921_*922insAG	ENSP00000501795.1:n.*921_*922insAG
ENST00000675667.1:c.1121_1122insAG	ENSP00000501803.1:p.His374GlnfsTer?
ENST00000675874.1:c.*592_*593insAG	ENSP00000501851.1:n.*592_*593insAG
ENST00000675881.1:c.*132_*133insAG	ENSP00000501670.1:n.*132_*133insAG
ENST00000675939.1:c.1121_1122insAG	ENSP00000502256.1:p.His374GlnfsTer?
ENST00000675989.1:n.1496_1497insAG
ENST00000676208.1:c.*132_*133insAG	ENSP00000502468.1:n.*132_*133insAG
ENST00000676283.1:n.1496_1497insAG
ENST00000676385.2:c.1121_1122insAG	ENSP00000502091.1:p.His374GlnfsTer?
ENST00000676434.1:c.*132_*133insAG	ENSP00000501648.1:n.*132_*133insAG
ENST00000677389.1:c.1121_1122insAG MANE Plus Clinical	ENSP00000503633.1:p.His374GlnfsTer?
ENST00000347559.6:c.1121_1122insAG	ENSP00000292304.3:p.His374GlnfsTer?
ENST00000361308.8:c.1121_1122insAG	ENSP00000355292.5:p.His374GlnfsTer?
ENST00000368297.5:c.878_879insAG	ENSP00000357280.1:p.His293GlnfsTer?
ENST00000368298.2:n.385_386insAG
ENST00000368299.7:c.1121_1122insAG	ENSP00000357282.3:p.His374GlnfsTer?
ENST00000368300.8:c.1121_1122insAG	ENSP00000357283.4:p.His374GlnfsTer?
ENST00000368301.6:c.1121_1122insAG	ENSP00000357284.2:p.His374GlnfsTer?
ENST00000448611.6:c.785_786insAG	ENSP00000395597.2:p.His262GlnfsTer?
ENST00000473598.6:c.824_825insAG	ENSP00000421821.1:p.His275GlnfsTer?
ENST00000496738.5:n.506_507insAG
ENST00000498722.2:n.353_354insAG
NM_001257374.2:c.785_786insAG	NP_001244303.1:p.His262GlnfsTer?
NM_001282624.1:c.878_879insAG	NP_001269553.1:p.His293GlnfsTer?
NM_001282625.1:c.1121_1122insAG	NP_001269554.1:p.His374GlnfsTer?
NM_001282626.1:c.1121_1122insAG	NP_001269555.1:p.His374GlnfsTer?
NM_005572.3:c.1121_1122insAG , LRG_254t1:c.1121_1122insAG	NP_005563.1:p.His374GlnfsTer?
NM_170707.3:c.1121_1122insAG	NP_733821.1:p.His374GlnfsTer?
NM_170708.3:c.1121_1122insAG	NP_733822.1:p.His374GlnfsTer?
XM_011509533.1:c.785_786insAG	XP_011507835.1:p.His262GlnfsTer?
XM_011509534.1:c.497_498insAG	XP_011507836.1:p.His166GlnfsTer?
XR_921781.1:n.1410_1411insAG
XM_011509534.2:c.497_498insAG	XP_011507836.1:p.His166GlnfsTer?
XR_921781.2:n.1408_1409insAG
NM_170707.4:c.1121_1122insAG MANE Select	NP_733821.1:p.His374GlnfsTer?
NM_001257374.3:c.785_786insAG	NP_001244303.1:p.His262GlnfsTer?
NM_001282626.2:c.1121_1122insAG	NP_001269555.1:p.His374GlnfsTer?
NM_001282624.2:c.878_879insAG	NP_001269553.1:p.His293GlnfsTer?
NM_001282625.2:c.1121_1122insAG	NP_001269554.1:p.His374GlnfsTer?
NM_005572.4:c.1121_1122insAG MANE Plus Clinical	NP_005563.1:p.His374GlnfsTer?
NM_170708.4:c.1121_1122insAG	NP_733822.1:p.His374GlnfsTer?