Canonical Allele Identifier: CA2042463530
Gene: LEMD3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170043_65170044delinsTC , CM000674.2:g.65170043_65170044delinsTC GRCh38
NC_000012.11:g.65563823_65563824delinsTC , CM000674.1:g.65563823_65563824delinsTC GRCh37
NC_000012.10:g.63850090_63850091delinsTC NCBI36
NG_016210.1:g.5473_5474delinsTC
NG_016210.2:g.5473_5474delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.447_448delinsTC MANE Select ENSP00000308369.2:p.Ser149=
ENST00000308330.2:c.447_448delinsTC ENSP00000308369.2:p.Ser149=
ENST00000541171.1:n.461_462delinsTC
NM_001167614.1:c.447_448delinsTC NP_001161086.1:p.Ser149=
NM_014319.4:c.447_448delinsTC NP_055134.2:p.Ser149=
NM_014319.5:c.447_448delinsTC MANE Select NP_055134.2:p.Ser149=
NM_001167614.2:c.447_448delinsTC NP_001161086.1:p.Ser149=
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