Canonical Allele Identifier: CA238915040
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs917036550
gnomAD v2: 12-65632119-CT-C
gnomAD v3: 12-65238339-CT-C
gnomAD v4: 12-65238339-CT-C
MyVariant Identifiers: chr12:g.65632122del (hg19) chr12:g.65632120del (hg19) chr12:g.65238342del (hg38) chr12:g.65238340del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238348del , CM000674.2:g.65238348del GRCh38
NC_000012.11:g.65632128del , CM000674.1:g.65632128del GRCh37
NC_000012.10:g.63918395del NCBI36
NG_016210.1:g.73778del
NG_016210.2:g.73778del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1696-154del MANE Select ENSP00000308369.2:n.1696-154del
ENST00000308330.2:c.1696-154del ENSP00000308369.2:n.1696-154del
NM_001167614.1:c.1693-154del NP_001161086.1:n.1693-154del
NM_014319.4:c.1696-154del NP_055134.2:n.1696-154del
NM_014319.5:c.1696-154del MANE Select NP_055134.2:n.1696-154del
NM_001167614.2:c.1693-154del NP_001161086.1:n.1693-154del
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