Canonical Allele Identifier: CA2619668206

Gene: LEMD3

Linked Data

• gnomAD v4: 12-65170047-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65170050del , CM000674.2:g.65170050del	GRCh38
NC_000012.11:g.65563830del , CM000674.1:g.65563830del	GRCh37
NC_000012.10:g.63850097del	NCBI36
NG_016210.1:g.5480del
NG_016210.2:g.5480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.454del MANE Select	ENSP00000308369.2:p.Asp152ThrfsTer?
ENST00000308330.2:c.454del	ENSP00000308369.2:p.Asp152ThrfsTer?
ENST00000541171.1:n.468del
NM_001167614.1:c.454del	NP_001161086.1:p.Asp152ThrfsTer?
NM_014319.4:c.454del	NP_055134.2:p.Asp152ThrfsTer?
NM_014319.5:c.454del MANE Select	NP_055134.2:p.Asp152ThrfsTer?
NM_001167614.2:c.454del	NP_001161086.1:p.Asp152ThrfsTer?