Canonical Allele Identifier: CA2562490758
Gene: LEMD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65246418_65246420del , CM000674.2:g.65246418_65246420del GRCh38
NC_000012.11:g.65640198_65640200del , CM000674.1:g.65640198_65640200del GRCh37
NC_000012.10:g.63926465_63926467del NCBI36
NG_016210.1:g.81848_81850del
NG_016210.2:g.81848_81850del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.*93_*95del MANE Select ENSP00000308369.2:n.*93_*95del
ENST00000308330.2:c.*93_*95del ENSP00000308369.2:n.*93_*95del
ENST00000539442.1:n.811_813del
NM_001167614.1:c.*93_*95del NP_001161086.1:n.*93_*95del
NM_014319.4:c.*93_*95del NP_055134.2:n.*93_*95del
NM_014319.5:c.*93_*95del MANE Select NP_055134.2:n.*93_*95del
NM_001167614.2:c.*93_*95del NP_001161086.1:n.*93_*95del