Canonical Allele Identifier: CA6670724
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs757886688
ExAC: 12:65563924 C / CT
gnomAD v2: 12-65563924-C-CT
gnomAD v4: 12-65170144-C-CT
MyVariant Identifiers: chr12:g.65563924_65563925insT (hg19) chr12:g.65170144_65170145insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170145dup , CM000674.2:g.65170145dup GRCh38
NC_000012.11:g.65563925dup , CM000674.1:g.65563925dup GRCh37
NC_000012.10:g.63850192dup NCBI36
NG_016210.1:g.5575dup
NG_016210.2:g.5575dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.549dup MANE Select ENSP00000308369.2:p.Asn184Ter
ENST00000308330.2:c.549dup ENSP00000308369.2:p.Asn184Ter
ENST00000541171.1:n.563dup
NM_001167614.1:c.549dup NP_001161086.1:p.Asn184Ter
NM_014319.4:c.549dup NP_055134.2:p.Asn184Ter
NM_014319.5:c.549dup MANE Select NP_055134.2:p.Asn184Ter
NM_001167614.2:c.549dup NP_001161086.1:p.Asn184Ter
Search 100 bp 5'
Search 100 bp 3'