Canonical Allele Identifier: CA2042456334
Gene: LEMD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65246134_65246148delinsCTAAAATATTATTTT , CM000674.2:g.65246134_65246148delinsCTAAAATATTATTTT GRCh38
NC_000012.11:g.65639914_65639928delinsCTAAAATATTATTTT , CM000674.1:g.65639914_65639928delinsCTAAAATATTATTTT GRCh37
NC_000012.10:g.63926181_63926195delinsCTAAAATATTATTTT NCBI36
NG_016210.1:g.81564_81578delinsCTAAAATATTATTTT
NG_016210.2:g.81564_81578delinsCTAAAATATTATTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.2573-28_2573-14delinsCTAAAATATTATTTT MANE Select ENSP00000308369.2:n.2573-28_2573-14delinsCTAAAATATTATTTT
ENST00000308330.2:c.2573-28_2573-14delinsCTAAAATATTATTTT ENSP00000308369.2:n.2573-28_2573-14delinsCTAAAATATTATTTT
ENST00000539442.1:n.555-28_555-14delinsCTAAAATATTATTTT
ENST00000544506.1:n.293-28_293-14delinsCTAAAATATTATTTT
ENST00000545026.1:n.391-28_391-14delinsCTAAAATATTATTTT
NM_001167614.1:c.2570-28_2570-14delinsCTAAAATATTATTTT NP_001161086.1:n.2570-28_2570-14delinsCTAAAATATTATTTT
NM_014319.4:c.2573-28_2573-14delinsCTAAAATATTATTTT NP_055134.2:n.2573-28_2573-14delinsCTAAAATATTATTTT
NM_014319.5:c.2573-28_2573-14delinsCTAAAATATTATTTT MANE Select NP_055134.2:n.2573-28_2573-14delinsCTAAAATATTATTTT
NM_001167614.2:c.2570-28_2570-14delinsCTAAAATATTATTTT NP_001161086.1:n.2570-28_2570-14delinsCTAAAATATTATTTT