Canonical Allele Identifier: CA2619670877

Gene: LEMD3

Linked Data

• gnomAD v4: 12-65246871-GATGTATATGTAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65246872_65246883del , CM000674.2:g.65246872_65246883del	GRCh38
NC_000012.11:g.65640652_65640663del , CM000674.1:g.65640652_65640663del	GRCh37
NC_000012.10:g.63926919_63926930del	NCBI36
NG_016210.1:g.82302_82313del
NG_016210.2:g.82302_82313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.*547_*558del MANE Select	ENSP00000308369.2:n.*547_*558del
ENST00000308330.2:c.*547_*558del	ENSP00000308369.2:n.*547_*558del
NM_001167614.1:c.*547_*558del	NP_001161086.1:n.*547_*558del
NM_014319.4:c.*547_*558del	NP_055134.2:n.*547_*558del
NM_014319.5:c.*547_*558del MANE Select	NP_055134.2:n.*547_*558del
NM_001167614.2:c.*547_*558del	NP_001161086.1:n.*547_*558del