Canonical Allele Identifier: CA2796331407
Gene: LEMD3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238678_65238679insGTG , CM000674.2:g.65238678_65238679insGTG GRCh38
NC_000012.11:g.65632458_65632459insGTG , CM000674.1:g.65632458_65632459insGTG GRCh37
NC_000012.10:g.63918725_63918726insGTG NCBI36
NG_016210.1:g.74108_74109insGTG
NG_016210.2:g.74108_74109insGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1785_1786insGTG MANE Select ENSP00000308369.2:p.Gly595_Phe596insVal
ENST00000308330.2:c.1785_1786insGTG ENSP00000308369.2:p.Gly595_Phe596insVal
NM_001167614.1:c.1782_1783insGTG NP_001161086.1:p.Gly594_Phe595insVal
NM_014319.4:c.1785_1786insGTG NP_055134.2:p.Gly595_Phe596insVal
NM_014319.5:c.1785_1786insGTG MANE Select NP_055134.2:p.Gly595_Phe596insVal
NM_001167614.2:c.1782_1783insGTG NP_001161086.1:p.Gly594_Phe595insVal
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