Canonical Allele Identifier: CA217675
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 66757
ClinVar RCV Id: RCV000057213
dbSNP Id: rs267607546

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156114916_156114930del , CM000663.2:g.156114916_156114930del GRCh38
NC_000001.10:g.156084707_156084721del , CM000663.1:g.156084707_156084721del GRCh37
NC_000001.9:g.154351331_154351345del NCBI36
NG_008692.2:g.37344_37358del , LRG_254:g.37344_37358del

Transcript Alleles

HGVS Amino-acid change
ENST00000682650.1:c.-3_12del
ENST00000683032.1:c.-3_12del
ENST00000684195.1:c.-3_12del
ENST00000361308.9:c.-3_12del
ENST00000368300.9:c.-3_12del
ENST00000496738.6:n.373_387del
ENST00000674518.1:c.-3_12del
ENST00000674600.1:c.-3_12del
ENST00000674720.1:c.-3_12del
ENST00000675455.1:c.-3_12del
ENST00000675667.1:c.-3_12del
ENST00000675874.1:c.-3_12del
ENST00000675881.1:c.-3_12del
ENST00000675939.1:c.-3_12del
ENST00000675989.1:n.373_387del
ENST00000676208.1:c.-3_12del
ENST00000676283.1:n.373_387del
ENST00000676385.2:c.-3_12del
ENST00000676434.1:c.-3_12del
ENST00000677389.1:c.-3_12del
ENST00000347559.6:c.-3_12del
ENST00000361308.8:c.-3_12del
ENST00000368299.7:c.-3_12del
ENST00000368300.8:c.-3_12del
ENST00000368301.6:c.-3_12del
ENST00000469565.6:n.80-48_80-34del
ENST00000470199.2:n.206_220del
ENST00000478063.2:n.201+5_201+19del
ENST00000502751.5:n.329-15701_329-15687del
NM_001282625.1:c.-3_12del
NM_001282626.1:c.-3_12del
NM_005572.3:c.-3_12del , LRG_254t1:c.-3_12del
NM_170707.3:c.-3_12del
NM_170708.3:c.-3_12del
XR_921781.1:n.247_261del
XR_921781.2:n.245_259del
NM_170707.4:c.-3_12del
NM_001282626.2:c.-3_12del
NM_001282625.2:c.-3_12del
NM_005572.4:c.-3_12del
NM_170708.4:c.-3_12del