Canonical Allele Identifier: CA948625890
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1871101299
gnomAD v3: 12-65246247-GCCATCAAATAAACATATGAACT-G
gnomAD v4: 12-65246247-GCCATCAAATAAACATATGAACT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65246252_65246273del , CM000674.2:g.65246252_65246273del GRCh38
NC_000012.11:g.65640032_65640053del , CM000674.1:g.65640032_65640053del GRCh37
NC_000012.10:g.63926299_63926320del NCBI36
NG_016210.1:g.81682_81703del
NG_016210.2:g.81682_81703del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.2663_2684del MANE Select ENSP00000308369.2:p.Ser888CysfsTer10
ENST00000308330.2:c.2663_2684del ENSP00000308369.2:p.Ser888CysfsTer10
ENST00000539442.1:n.645_666del
ENST00000544506.1:n.383_404del
ENST00000545026.1:n.481_502del
NM_001167614.1:c.2660_2681del NP_001161086.1:p.Ser887CysfsTer10
NM_014319.4:c.2663_2684del NP_055134.2:p.Ser888CysfsTer10
NM_014319.5:c.2663_2684del MANE Select NP_055134.2:p.Ser888CysfsTer10
NM_001167614.2:c.2660_2681del NP_001161086.1:p.Ser887CysfsTer10
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