Canonical Allele Identifier: CA2042463778
Gene: LEMD3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170180_65170183delinsCGTG , CM000674.2:g.65170180_65170183delinsCGTG GRCh38
NC_000012.11:g.65563960_65563963delinsCGTG , CM000674.1:g.65563960_65563963delinsCGTG GRCh37
NC_000012.10:g.63850227_63850230delinsCGTG NCBI36
NG_016210.1:g.5610_5613delinsCGTG
NG_016210.2:g.5610_5613delinsCGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.584_587delinsCGTG MANE Select ENSP00000308369.2:p.Ser195=
ENST00000308330.2:c.584_587delinsCGTG ENSP00000308369.2:p.Ser195=
ENST00000541171.1:n.598_601delinsCGTG
NM_001167614.1:c.584_587delinsCGTG NP_001161086.1:p.Ser195=
NM_014319.4:c.584_587delinsCGTG NP_055134.2:p.Ser195=
NM_014319.5:c.584_587delinsCGTG MANE Select NP_055134.2:p.Ser195=
NM_001167614.2:c.584_587delinsCGTG NP_001161086.1:p.Ser195=
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