Canonical Allele Identifier: CA2598240300
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs2136353618
gnomAD v3: 12-65238373-TTTCTG-T
gnomAD v4: 12-65238373-TTTCTG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238375_65238379del , CM000674.2:g.65238375_65238379del GRCh38
NC_000012.11:g.65632155_65632159del , CM000674.1:g.65632155_65632159del GRCh37
NC_000012.10:g.63918422_63918426del NCBI36
NG_016210.1:g.73805_73809del
NG_016210.2:g.73805_73809del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1696-127_1696-123del MANE Select ENSP00000308369.2:n.1696-127_1696-123del
ENST00000308330.2:c.1696-127_1696-123del ENSP00000308369.2:n.1696-127_1696-123del
NM_001167614.1:c.1693-127_1693-123del NP_001161086.1:n.1693-127_1693-123del
NM_014319.4:c.1696-127_1696-123del NP_055134.2:n.1696-127_1696-123del
NM_014319.5:c.1696-127_1696-123del MANE Select NP_055134.2:n.1696-127_1696-123del
NM_001167614.2:c.1693-127_1693-123del NP_001161086.1:n.1693-127_1693-123del
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