Canonical Allele Identifier: CA2575215406
Gene: LEMD3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65240019del , CM000674.2:g.65240019del GRCh38
NC_000012.11:g.65633799del , CM000674.1:g.65633799del GRCh37
NC_000012.10:g.63920066del NCBI36
NG_016210.1:g.75449del
NG_016210.2:g.75449del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.2012del MANE Select ENSP00000308369.2:p.Val671GlufsTer4
ENST00000308330.2:c.2012del ENSP00000308369.2:p.Val671GlufsTer4
NM_001167614.1:c.2009del NP_001161086.1:p.Val670GlufsTer4
NM_014319.4:c.2012del NP_055134.2:p.Val671GlufsTer4
NM_014319.5:c.2012del MANE Select NP_055134.2:p.Val671GlufsTer4
NM_001167614.2:c.2009del NP_001161086.1:p.Val670GlufsTer4
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