Canonical Allele Identifier: CA2573149788

Gene: NRL

Linked Data

• ClinVar Variation Id: 1470971
• ClinVar RCV Id: RCV001964442
• dbSNP Id: rs2138869370

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081384dup , CM000676.2:g.24081384dup	GRCh38
NC_000014.8:g.24550593dup , CM000676.1:g.24550593dup	GRCh37
NC_000014.7:g.23620433dup	NCBI36
NG_011697.1:g.8241dup
NG_011697.2:g.38632dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.567dup MANE Select	ENSP00000454062.2:p.Glu190ArgfsTer?
ENST00000396995.1:c.150dup	ENSP00000380191.1:p.Glu51ArgfsTer?
ENST00000396997.1:c.567dup	ENSP00000380193.1:p.Glu190ArgfsTer?
ENST00000397002.6:c.567dup	ENSP00000380197.2:p.Glu190ArgfsTer?
ENST00000560550.1:c.150dup	ENSP00000452966.1:p.Glu51ArgfsTer?
ENST00000561028.5:c.567dup	ENSP00000454062.1:p.Glu190ArgfsTer?
NM_006177.3:c.567dup	NP_006168.1:p.Glu190ArgfsTer?
XM_005267708.3:c.567dup	XP_005267765.1:p.Glu190ArgfsTer?
XM_005267709.3:c.567dup	XP_005267766.1:p.Glu190ArgfsTer?
XM_005267710.3:c.567dup	XP_005267767.1:p.Glu190ArgfsTer?
XM_011536801.1:c.666dup	XP_011535103.1:p.Glu223ArgfsTer?
XM_011536802.1:c.567dup	XP_011535104.1:p.Glu190ArgfsTer?
XM_011536803.1:c.567dup	XP_011535105.1:p.Glu190ArgfsTer?
XM_011536804.1:c.567dup	XP_011535106.1:p.Glu190ArgfsTer?
XM_011536805.1:c.567dup	XP_011535107.1:p.Glu190ArgfsTer?
XM_011536806.1:c.351dup	XP_011535108.1:p.Glu118ArgfsTer?
NM_001354768.1:c.567dup	NP_001341697.1:p.Glu190ArgfsTer?
NM_001354769.1:c.567dup	NP_001341698.1:p.Glu190ArgfsTer?
NM_001354770.1:c.252dup	NP_001341699.1:p.Glu85ArgfsTer?
NM_006177.4:c.567dup	NP_006168.1:p.Glu190ArgfsTer?
XM_011536801.2:c.873dup	XP_011535103.2:p.Glu292ArgfsTer?
XM_011536804.2:c.567dup	XP_011535106.1:p.Glu190ArgfsTer?
XM_011536805.2:c.567dup	XP_011535107.1:p.Glu190ArgfsTer?
XM_011536806.2:c.558dup	XP_011535108.2:p.Glu187ArgfsTer?
NM_001354768.3:c.567dup MANE Select	NP_001341697.1:p.Glu190ArgfsTer?
NM_001354770.2:c.252dup	NP_001341699.1:p.Glu85ArgfsTer?
NM_006177.5:c.567dup	NP_006168.1:p.Glu190ArgfsTer?