Canonical Allele Identifier: CA2580070408
Gene: LMOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2169511
ClinVar RCV Id: RCV003100635

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69119473dup , CM000665.2:g.69119473dup GRCh38
NC_000003.11:g.69168624dup , CM000665.1:g.69168624dup GRCh37
NC_000003.10:g.69251314dup NCBI36
NG_041828.1:g.8123dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000420581.7:c.882dup MANE Select ENSP00000414670.3:p.Asp295ArgfsTer2
ENST00000420581.6:c.882dup ENSP00000414670.2:p.Asp295ArgfsTer2
ENST00000475434.1:c.882dup ENSP00000418645.1:p.Asp295ArgfsTer2
ENST00000489031.5:c.882dup ENSP00000417210.1:p.Asp295ArgfsTer2
NM_001304418.1:c.882dup NP_001291347.1:p.Asp295ArgfsTer2
NM_198271.4:c.882dup NP_938012.2:p.Asp295ArgfsTer2
NM_001304418.3:c.882dup NP_001291347.1:p.Asp295ArgfsTer2
NM_198271.5:c.882dup MANE Select NP_938012.2:p.Asp295ArgfsTer2