Canonical Allele Identifier: CA2619669398
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65238425-AGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238430_65238431del , CM000674.2:g.65238430_65238431del GRCh38
NC_000012.11:g.65632210_65632211del , CM000674.1:g.65632210_65632211del GRCh37
NC_000012.10:g.63918477_63918478del NCBI36
NG_016210.1:g.73860_73861del
NG_016210.2:g.73860_73861del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1696-72_1696-71del MANE Select ENSP00000308369.2:n.1696-72_1696-71del
ENST00000308330.2:c.1696-72_1696-71del ENSP00000308369.2:n.1696-72_1696-71del
NM_001167614.1:c.1693-72_1693-71del NP_001161086.1:n.1693-72_1693-71del
NM_014319.4:c.1696-72_1696-71del NP_055134.2:n.1696-72_1696-71del
NM_014319.5:c.1696-72_1696-71del MANE Select NP_055134.2:n.1696-72_1696-71del
NM_001167614.2:c.1693-72_1693-71del NP_001161086.1:n.1693-72_1693-71del
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