Canonical Allele Identifier: CA2619668216
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65170110-GCGCCGCCGGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170111_65170120del , CM000674.2:g.65170111_65170120del GRCh38
NC_000012.11:g.65563891_65563900del , CM000674.1:g.65563891_65563900del GRCh37
NC_000012.10:g.63850158_63850167del NCBI36
NG_016210.1:g.5541_5550del
NG_016210.2:g.5541_5550del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.515_524del MANE Select ENSP00000308369.2:p.Ala172GlyfsTer8
ENST00000308330.2:c.515_524del ENSP00000308369.2:p.Ala172GlyfsTer8
ENST00000541171.1:n.529_538del
NM_001167614.1:c.515_524del NP_001161086.1:p.Ala172GlyfsTer8
NM_014319.4:c.515_524del NP_055134.2:p.Ala172GlyfsTer8
NM_014319.5:c.515_524del MANE Select NP_055134.2:p.Ala172GlyfsTer8
NM_001167614.2:c.515_524del NP_001161086.1:p.Ala172GlyfsTer8
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