Canonical Allele Identifier: CA2619668208
Gene: LEMD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170066dup , CM000674.2:g.65170066dup GRCh38
NC_000012.11:g.65563846dup , CM000674.1:g.65563846dup GRCh37
NC_000012.10:g.63850113dup NCBI36
NG_016210.1:g.5496dup
NG_016210.2:g.5496dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.470dup MANE Select ENSP00000308369.2:p.Gly158ArgfsTer27
ENST00000308330.2:c.470dup ENSP00000308369.2:p.Gly158ArgfsTer27
ENST00000541171.1:n.484dup
NM_001167614.1:c.470dup NP_001161086.1:p.Gly158ArgfsTer27
NM_014319.4:c.470dup NP_055134.2:p.Gly158ArgfsTer27
NM_014319.5:c.470dup MANE Select NP_055134.2:p.Gly158ArgfsTer27
NM_001167614.2:c.470dup NP_001161086.1:p.Gly158ArgfsTer27