Canonical Allele Identifier: CA2042443988

Gene: LEMD3

Linked Data

• dbSNP Id: rs1870830087
• gnomAD v3: 12-65238334-GCTAA-G
• gnomAD v4: 12-65238334-GCTAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65238337_65238340del , CM000674.2:g.65238337_65238340del	GRCh38
NC_000012.11:g.65632117_65632120del , CM000674.1:g.65632117_65632120del	GRCh37
NC_000012.10:g.63918384_63918387del	NCBI36
NG_016210.1:g.73767_73770del
NG_016210.2:g.73767_73770del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.1696-165_1696-162del MANE Select	ENSP00000308369.2:n.1696-165_1696-162del
ENST00000308330.2:c.1696-165_1696-162del	ENSP00000308369.2:n.1696-165_1696-162del
NM_001167614.1:c.1693-165_1693-162del	NP_001161086.1:n.1693-165_1693-162del
NM_014319.4:c.1696-165_1696-162del	NP_055134.2:n.1696-165_1696-162del
NM_014319.5:c.1696-165_1696-162del MANE Select	NP_055134.2:n.1696-165_1696-162del
NM_001167614.2:c.1693-165_1693-162del	NP_001161086.1:n.1693-165_1693-162del