Canonical Allele Identifier: CA2619669454

Gene: LEMD3

Linked Data

• gnomAD v4: 12-65238749-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65238754dup , CM000674.2:g.65238754dup	GRCh38
NC_000012.11:g.65632534dup , CM000674.1:g.65632534dup	GRCh37
NC_000012.10:g.63918801dup	NCBI36
NG_016210.1:g.74184dup
NG_016210.2:g.74184dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.1861dup MANE Select	ENSP00000308369.2:p.Trp621LeufsTer?
ENST00000308330.2:c.1861dup	ENSP00000308369.2:p.Trp621LeufsTer?
NM_001167614.1:c.1858dup	NP_001161086.1:p.Trp620LeufsTer?
NM_014319.4:c.1861dup	NP_055134.2:p.Trp621LeufsTer?
NM_014319.5:c.1861dup MANE Select	NP_055134.2:p.Trp621LeufsTer?
NM_001167614.2:c.1858dup	NP_001161086.1:p.Trp620LeufsTer?