Canonical Allele Identifier: CA2619668215
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65170093-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170094del , CM000674.2:g.65170094del GRCh38
NC_000012.11:g.65563874del , CM000674.1:g.65563874del GRCh37
NC_000012.10:g.63850141del NCBI36
NG_016210.1:g.5524del
NG_016210.2:g.5524del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.498del MANE Select ENSP00000308369.2:p.Gln166HisfsTer17
ENST00000308330.2:c.498del ENSP00000308369.2:p.Gln166HisfsTer17
ENST00000541171.1:n.512del
NM_001167614.1:c.498del NP_001161086.1:p.Gln166HisfsTer17
NM_014319.4:c.498del NP_055134.2:p.Gln166HisfsTer17
NM_014319.5:c.498del MANE Select NP_055134.2:p.Gln166HisfsTer17
NM_001167614.2:c.498del NP_001161086.1:p.Gln166HisfsTer17
Search 100 bp 5'
Search 100 bp 3'