Canonical Allele Identifier: CA2488884

Gene: LMOD3

Linked Data

• dbSNP Id: rs745718708
• ExAC: 3:69168552 CT / C
• gnomAD v2: 3-69168552-CT-C
• MyVariant Identifiers: chr3:g.69168553del (hg19) ; chr3:g.69119402del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69119402del , CM000665.2:g.69119402del	GRCh38
NC_000003.11:g.69168553del , CM000665.1:g.69168553del	GRCh37
NC_000003.10:g.69251243del	NCBI36
NG_041828.1:g.8194del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420581.7:c.953del MANE Select	ENSP00000414670.3:p.Glu318GlyfsTer14
ENST00000420581.6:c.953del	ENSP00000414670.2:p.Glu318GlyfsTer14
ENST00000475434.1:c.953del	ENSP00000418645.1:p.Glu318GlyfsTer14
ENST00000489031.5:c.953del	ENSP00000417210.1:p.Glu318GlyfsTer14
NM_001304418.1:c.953del	NP_001291347.1:p.Glu318GlyfsTer14
NM_198271.4:c.953del	NP_938012.2:p.Glu318GlyfsTer14
NM_001304418.3:c.953del	NP_001291347.1:p.Glu318GlyfsTer14
NM_198271.5:c.953del MANE Select	NP_938012.2:p.Glu318GlyfsTer14