Canonical Allele Identifier: CA2619668219
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65170171-AGCCCCACTC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170173_65170181del , CM000674.2:g.65170173_65170181del GRCh38
NC_000012.11:g.65563953_65563961del , CM000674.1:g.65563953_65563961del GRCh37
NC_000012.10:g.63850220_63850228del NCBI36
NG_016210.1:g.5603_5611del
NG_016210.2:g.5603_5611del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.577_585del MANE Select ENSP00000308369.2:p.Pro193_Ser195del
ENST00000308330.2:c.577_585del ENSP00000308369.2:p.Pro193_Ser195del
ENST00000541171.1:n.591_599del
NM_001167614.1:c.577_585del NP_001161086.1:p.Pro193_Ser195del
NM_014319.4:c.577_585del NP_055134.2:p.Pro193_Ser195del
NM_014319.5:c.577_585del MANE Select NP_055134.2:p.Pro193_Ser195del
NM_001167614.2:c.577_585del NP_001161086.1:p.Pro193_Ser195del
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