Canonical Allele Identifier: CA2598240299
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v3: 12-65238349-CTTTT-C
gnomAD v4: 12-65238349-CTTTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238352_65238355del , CM000674.2:g.65238352_65238355del GRCh38
NC_000012.11:g.65632132_65632135del , CM000674.1:g.65632132_65632135del GRCh37
NC_000012.10:g.63918399_63918402del NCBI36
NG_016210.1:g.73782_73785del
NG_016210.2:g.73782_73785del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1696-150_1696-147del MANE Select ENSP00000308369.2:n.1696-150_1696-147del
ENST00000308330.2:c.1696-150_1696-147del ENSP00000308369.2:n.1696-150_1696-147del
NM_001167614.1:c.1693-150_1693-147del NP_001161086.1:n.1693-150_1693-147del
NM_014319.4:c.1696-150_1696-147del NP_055134.2:n.1696-150_1696-147del
NM_014319.5:c.1696-150_1696-147del MANE Select NP_055134.2:n.1696-150_1696-147del
NM_001167614.2:c.1693-150_1693-147del NP_001161086.1:n.1693-150_1693-147del
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