Canonical Allele Identifier: CA130909

Gene: LRMDA

Linked Data

• ClinVar Variation Id: 41917
• ClinVar RCV Id: RCV000034834 ; RCV001564665 ; RCV003974869
• dbSNP Id: rs587776953
• ExAC: 10:77795783 G / GC
• gnomAD v2: 10-77795783-G-GC
• gnomAD v3: 10-76036025-G-GC
• gnomAD v4: 10-76036025-G-GC
• MyVariant Identifiers: chr10:g.77795784dupC (hg19) ; chr10:g.77795783_77795784insC (hg19) ; chr10:g.76036026dupC (hg38) ; chr10:g.76036025_76036026insC (hg38)
• PubMed: PMID:23395477

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.76036026dup , CM000672.2:g.76036026dup	GRCh38
NC_000010.10:g.77795784dup , CM000672.1:g.77795784dup	GRCh37
NC_000010.9:g.77465790dup	NCBI36
NG_042180.1:g.609381dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000611255.5:c.150dup MANE Select	ENSP00000480240.1:p.Ala51ArgfsTer?
ENST00000372499.5:c.66dup	ENSP00000361577.1:p.Ala23ArgfsTer?
ENST00000593699.5:n.504dup
ENST00000593817.1:n.111dup
ENST00000611255.4:c.150dup	ENSP00000480240.1:p.Ala51ArgfsTer?
ENST00000611306.1:c.21dup	ENSP00000482991.1:p.Ala8ArgfsTer?
NM_001305581.1:c.150dup	NP_001292510.1:p.Ala51ArgfsTer?
NM_032024.3:c.66dup	NP_114413.1:p.Ala23ArgfsTer?
NM_032024.4:c.66dup	NP_114413.1:p.Ala23ArgfsTer?
NR_131178.1:n.504dup
XM_011540256.1:c.150dup	XP_011538558.1:p.Ala51ArgfsTer?
XM_011540257.1:c.150dup	XP_011538559.1:p.Ala51ArgfsTer?
XM_011540258.1:c.150dup	XP_011538560.1:p.Ala51ArgfsTer?
XR_945833.1:n.417dup
NM_001305581.2:c.150dup MANE Select	NP_001292510.1:p.Ala51ArgfsTer?
NM_032024.5:c.66dup	NP_114413.1:p.Ala23ArgfsTer?
NR_131178.2:n.504dup