Canonical Allele Identifier: CA605709983
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1487256517
gnomAD v2: 12-65632087-CT-C
gnomAD v3: 12-65238307-CT-C
gnomAD v4: 12-65238307-CT-C
MyVariant Identifiers: chr12:g.65632088del (hg19) chr12:g.65238308del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238308del , CM000674.2:g.65238308del GRCh38
NC_000012.11:g.65632088del , CM000674.1:g.65632088del GRCh37
NC_000012.10:g.63918355del NCBI36
NG_016210.1:g.73738del
NG_016210.2:g.73738del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1696-194del MANE Select ENSP00000308369.2:n.1696-194del
ENST00000308330.2:c.1696-194del ENSP00000308369.2:n.1696-194del
NM_001167614.1:c.1693-194del NP_001161086.1:n.1693-194del
NM_014319.4:c.1696-194del NP_055134.2:n.1696-194del
NM_014319.5:c.1696-194del MANE Select NP_055134.2:n.1696-194del
NM_001167614.2:c.1693-194del NP_001161086.1:n.1693-194del
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