Canonical Allele Identifier: CA2042456187
Gene: LEMD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65245975_65245979delinsATAGT , CM000674.2:g.65245975_65245979delinsATAGT GRCh38
NC_000012.11:g.65639755_65639759delinsATAGT , CM000674.1:g.65639755_65639759delinsATAGT GRCh37
NC_000012.10:g.63926022_63926026delinsATAGT NCBI36
NG_016210.1:g.81405_81409delinsATAGT
NG_016210.2:g.81405_81409delinsATAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.2572+36_2572+40delinsATAGT MANE Select ENSP00000308369.2:n.2572+36_2572+40delinsATAGT
ENST00000308330.2:c.2572+36_2572+40delinsATAGT ENSP00000308369.2:n.2572+36_2572+40delinsATAGT
ENST00000539442.1:n.554+36_554+40delinsATAGT
ENST00000544506.1:n.292+36_292+40delinsATAGT
ENST00000545026.1:n.390+36_390+40delinsATAGT
NM_001167614.1:c.2569+36_2569+40delinsATAGT NP_001161086.1:n.2569+36_2569+40delinsATAGT
NM_014319.4:c.2572+36_2572+40delinsATAGT NP_055134.2:n.2572+36_2572+40delinsATAGT
NM_014319.5:c.2572+36_2572+40delinsATAGT MANE Select NP_055134.2:n.2572+36_2572+40delinsATAGT
NM_001167614.2:c.2569+36_2569+40delinsATAGT NP_001161086.1:n.2569+36_2569+40delinsATAGT