Canonical Allele Identifier: CA2489093

Gene: LMOD3

Linked Data

• ClinVar Variation Id: 475320
• ClinVar RCV Id: RCV000549842 ; RCV001539876
• dbSNP Id: rs139192915
• ExAC: 3:69171496 GAGA / G
• gnomAD v2: 3-69171496-GAGA-G
• gnomAD v3: 3-69122345-GAGA-G
• gnomAD v4: 3-69122345-GAGA-G
• COSMIC: COSM308404 ; COSM308405
• MyVariant Identifiers: chr3:g.69171497_69171499del (hg19) ; chr3:g.69122347_69122349del (hg38) ; chr3:g.69122346_69122348del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69122348_69122350del , CM000665.2:g.69122348_69122350del	GRCh38
NC_000003.11:g.69171499_69171501del , CM000665.1:g.69171499_69171501del	GRCh37
NC_000003.10:g.69254189_69254191del	NCBI36
NG_041828.1:g.5248_5250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420581.7:c.39_41del MANE Select	ENSP00000414670.3:p.Leu14del
ENST00000420581.6:c.39_41del	ENSP00000414670.2:p.Leu14del
ENST00000475434.1:c.39_41del	ENSP00000418645.1:p.Leu14del
ENST00000489031.5:c.39_41del	ENSP00000417210.1:p.Leu14del
NM_001304418.1:c.39_41del	NP_001291347.1:p.Leu14del
NM_198271.4:c.39_41del	NP_938012.2:p.Leu14del
NM_001304418.3:c.39_41del	NP_001291347.1:p.Leu14del
NM_198271.5:c.39_41del MANE Select	NP_938012.2:p.Leu14del