Canonical Allele Identifier: CA2619669573
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65240013-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65240015del , CM000674.2:g.65240015del GRCh38
NC_000012.11:g.65633795del , CM000674.1:g.65633795del GRCh37
NC_000012.10:g.63920062del NCBI36
NG_016210.1:g.75445del
NG_016210.2:g.75445del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.2008del MANE Select ENSP00000308369.2:p.Val670TrpfsTer2
ENST00000308330.2:c.2008del ENSP00000308369.2:p.Val670TrpfsTer2
NM_001167614.1:c.2005del NP_001161086.1:p.Val669TrpfsTer2
NM_014319.4:c.2008del NP_055134.2:p.Val670TrpfsTer2
NM_014319.5:c.2008del MANE Select NP_055134.2:p.Val670TrpfsTer2
NM_001167614.2:c.2005del NP_001161086.1:p.Val669TrpfsTer2
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