Canonical Allele Identifier: CA238909577
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs531038153
gnomAD v2: 12-65582213-TG-T
gnomAD v3: 12-65188433-TG-T
gnomAD v4: 12-65188433-TG-T
MyVariant Identifiers: chr12:g.65582214del (hg19) chr12:g.65188434del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65188436del , CM000674.2:g.65188436del GRCh38
NC_000012.11:g.65582216del , CM000674.1:g.65582216del GRCh37
NC_000012.10:g.63868483del NCBI36
NG_016210.1:g.23866del
NG_016210.2:g.23866del

Transcript Alleles

HGVS Amino-acid change
ENST00000308330.3:c.1522+17318del MANE Select ENSP00000308369.2:n.1522+17318del
ENST00000308330.2:c.1522+17318del ENSP00000308369.2:n.1522+17318del
ENST00000541171.1:n.836+18018del
NM_001167614.1:c.1522+17318del NP_001161086.1:n.1522+17318del
NM_014319.4:c.1522+17318del NP_055134.2:n.1522+17318del
NM_014319.5:c.1522+17318del MANE Select NP_055134.2:n.1522+17318del
NM_001167614.2:c.1522+17318del NP_001161086.1:n.1522+17318del
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