Canonical Allele Identifier: CA919107522
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1592461989
gnomAD v3: 12-65238282-AAT-A
gnomAD v4: 12-65238282-AAT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238286_65238287del , CM000674.2:g.65238286_65238287del GRCh38
NC_000012.11:g.65632066_65632067del , CM000674.1:g.65632066_65632067del GRCh37
NC_000012.10:g.63918333_63918334del NCBI36
NG_016210.1:g.73716_73717del
NG_016210.2:g.73716_73717del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1696-216_1696-215del MANE Select ENSP00000308369.2:n.1696-216_1696-215del
ENST00000308330.2:c.1696-216_1696-215del ENSP00000308369.2:n.1696-216_1696-215del
NM_001167614.1:c.1693-216_1693-215del NP_001161086.1:n.1693-216_1693-215del
NM_014319.4:c.1696-216_1696-215del NP_055134.2:n.1696-216_1696-215del
NM_014319.5:c.1696-216_1696-215del MANE Select NP_055134.2:n.1696-216_1696-215del
NM_001167614.2:c.1693-216_1693-215del NP_001161086.1:n.1693-216_1693-215del
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