Canonical Allele Identifier: CA948626369

Gene: LEMD3

Linked Data

• dbSNP Id: rs1871155298
• gnomAD v3: 12-65247605-T-TAAAAATAACCGTCTCAAAAAAAAAAAAAAAAAAAA
• gnomAD v4: 12-65247605-T-TAAAAATAACCGTCTCAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65247615_65247616insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATAACC , CM000674.2:g.65247615_65247616insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATAACC	GRCh38
NC_000012.11:g.65641395_65641396insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATAACC , CM000674.1:g.65641395_65641396insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATAACC	GRCh37
NC_000012.10:g.63927662_63927663insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATAACC	NCBI36
NG_016210.1:g.83045_83046insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATAACC
NG_016210.2:g.83045_83046insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.*1290_*1291insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATAACC MANE Select	ENSP00000308369.2:n.*1290_*1291insGTCTCAAAAAAAAAAAAAAAAAAAAAA...
ENST00000308330.2:c.*1290_*1291insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATAACC	ENSP00000308369.2:n.*1290_*1291insGTCTCAAAAAAAAAAAAAAAAAAAAAA...
NM_001167614.1:c.*1290_*1291insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATAACC	NP_001161086.1:n.*1290_*1291insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_014319.4:c.*1290_*1291insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATAACC	NP_055134.2:n.*1290_*1291insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATAA...
NM_014319.5:c.*1290_*1291insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATAACC MANE Select	NP_055134.2:n.*1290_*1291insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATAA...
NM_001167614.2:c.*1290_*1291insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATAACC	NP_001161086.1:n.*1290_*1291insGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA...