Canonical Allele Identifier: CA238915859
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs991107144
gnomAD v3: 12-65247654-AC-A
gnomAD v4: 12-65247654-AC-A
MyVariant Identifiers: chr12:g.65641435del (hg19) chr12:g.65247655del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65247655del , CM000674.2:g.65247655del GRCh38
NC_000012.11:g.65641435del , CM000674.1:g.65641435del GRCh37
NC_000012.10:g.63927702del NCBI36
NG_016210.1:g.83085del
NG_016210.2:g.83085del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.*1330del MANE Select ENSP00000308369.2:n.*1330del
ENST00000308330.2:c.*1330del ENSP00000308369.2:n.*1330del
NM_001167614.1:c.*1330del NP_001161086.1:n.*1330del
NM_014319.4:c.*1330del NP_055134.2:n.*1330del
NM_014319.5:c.*1330del MANE Select NP_055134.2:n.*1330del
NM_001167614.2:c.*1330del NP_001161086.1:n.*1330del
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