Canonical Allele Identifier: CA605709975
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2860372
ClinVar RCV Id: RCV003696822
dbSNP Id: rs1417518142
gnomAD v2: 12-65563965-T-TG
gnomAD v4: 12-65170185-T-TG
MyVariant Identifiers: chr12:g.65563965_65563966insG (hg19) chr12:g.65170185_65170186insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170191dup , CM000674.2:g.65170191dup GRCh38
NC_000012.11:g.65563971dup , CM000674.1:g.65563971dup GRCh37
NC_000012.10:g.63850238dup NCBI36
NG_016210.1:g.5621dup
NG_016210.2:g.5621dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.595dup MANE Select ENSP00000308369.2:p.Ala199GlyfsTer30
ENST00000308330.2:c.595dup ENSP00000308369.2:p.Ala199GlyfsTer30
ENST00000541171.1:n.609dup
NM_001167614.1:c.595dup NP_001161086.1:p.Ala199GlyfsTer30
NM_014319.4:c.595dup NP_055134.2:p.Ala199GlyfsTer30
NM_014319.5:c.595dup MANE Select NP_055134.2:p.Ala199GlyfsTer30
NM_001167614.2:c.595dup NP_001161086.1:p.Ala199GlyfsTer30
Search 100 bp 5'
Search 100 bp 3'