Canonical Allele Identifier: CA2695217020

Gene: LEMD3

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65170169dup , CM000674.2:g.65170169dup	GRCh38
NC_000012.11:g.65563949dup , CM000674.1:g.65563949dup	GRCh37
NC_000012.10:g.63850216dup	NCBI36
NG_016210.1:g.5599dup
NG_016210.2:g.5599dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.573dup MANE Select	ENSP00000308369.2:p.Lys192GlufsTer?
ENST00000308330.2:c.573dup	ENSP00000308369.2:p.Lys192GlufsTer?
ENST00000541171.1:n.587dup
NM_001167614.1:c.573dup	NP_001161086.1:p.Lys192GlufsTer?
NM_014319.4:c.573dup	NP_055134.2:p.Lys192GlufsTer?
NM_014319.5:c.573dup MANE Select	NP_055134.2:p.Lys192GlufsTer?
NM_001167614.2:c.573dup	NP_001161086.1:p.Lys192GlufsTer?