Canonical Allele Identifier: CA2488892

Gene: LMOD3

Linked Data

• dbSNP Id: rs781319068
• ExAC: 3:69168591 CAT / C
• gnomAD v4: 3-69119440-CAT-C
• MyVariant Identifiers: chr3:g.69168592_69168593del (hg19) ; chr3:g.69119441_69119442del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69119441_69119442del , CM000665.2:g.69119441_69119442del	GRCh38
NC_000003.11:g.69168592_69168593del , CM000665.1:g.69168592_69168593del	GRCh37
NC_000003.10:g.69251282_69251283del	NCBI36
NG_041828.1:g.8154_8155del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420581.7:c.913_914del MANE Select	ENSP00000414670.3:p.Met305ValfsTer3
ENST00000420581.6:c.913_914del	ENSP00000414670.2:p.Met305ValfsTer3
ENST00000475434.1:c.913_914del	ENSP00000418645.1:p.Met305ValfsTer3
ENST00000489031.5:c.913_914del	ENSP00000417210.1:p.Met305ValfsTer3
NM_001304418.1:c.913_914del	NP_001291347.1:p.Met305ValfsTer3
NM_198271.4:c.913_914del	NP_938012.2:p.Met305ValfsTer3
NM_001304418.3:c.913_914del	NP_001291347.1:p.Met305ValfsTer3
NM_198271.5:c.913_914del MANE Select	NP_938012.2:p.Met305ValfsTer3