Canonical Allele Identifier: CA2042443970
Gene: LEMD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238314_65238327delinsTATTGGAGTAGTGG , CM000674.2:g.65238314_65238327delinsTATTGGAGTAGTGG GRCh38
NC_000012.11:g.65632094_65632107delinsTATTGGAGTAGTGG , CM000674.1:g.65632094_65632107delinsTATTGGAGTAGTGG GRCh37
NC_000012.10:g.63918361_63918374delinsTATTGGAGTAGTGG NCBI36
NG_016210.1:g.73744_73757delinsTATTGGAGTAGTGG
NG_016210.2:g.73744_73757delinsTATTGGAGTAGTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1696-188_1696-175delinsTATTGGAGTAGTGG MANE Select ENSP00000308369.2:n.1696-188_1696-175delinsTATTGGAGTAGTGG
ENST00000308330.2:c.1696-188_1696-175delinsTATTGGAGTAGTGG ENSP00000308369.2:n.1696-188_1696-175delinsTATTGGAGTAGTGG
NM_001167614.1:c.1693-188_1693-175delinsTATTGGAGTAGTGG NP_001161086.1:n.1693-188_1693-175delinsTATTGGAGTAGTGG
NM_014319.4:c.1696-188_1696-175delinsTATTGGAGTAGTGG NP_055134.2:n.1696-188_1696-175delinsTATTGGAGTAGTGG
NM_014319.5:c.1696-188_1696-175delinsTATTGGAGTAGTGG MANE Select NP_055134.2:n.1696-188_1696-175delinsTATTGGAGTAGTGG
NM_001167614.2:c.1693-188_1693-175delinsTATTGGAGTAGTGG NP_001161086.1:n.1693-188_1693-175delinsTATTGGAGTAGTGG