Canonical Allele Identifier: CA2619668217
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65170121-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170125del , CM000674.2:g.65170125del GRCh38
NC_000012.11:g.65563905del , CM000674.1:g.65563905del GRCh37
NC_000012.10:g.63850172del NCBI36
NG_016210.1:g.5555del
NG_016210.2:g.5555del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.529del MANE Select ENSP00000308369.2:p.Leu177TrpfsTer6
ENST00000308330.2:c.529del ENSP00000308369.2:p.Leu177TrpfsTer6
ENST00000541171.1:n.543del
NM_001167614.1:c.529del NP_001161086.1:p.Leu177TrpfsTer6
NM_014319.4:c.529del NP_055134.2:p.Leu177TrpfsTer6
NM_014319.5:c.529del MANE Select NP_055134.2:p.Leu177TrpfsTer6
NM_001167614.2:c.529del NP_001161086.1:p.Leu177TrpfsTer6
Search 100 bp 5'
Search 100 bp 3'