Canonical Allele Identifier: CA915948936

Gene: NRL

Linked Data

• ClinVar Variation Id: 812356
• ClinVar RCV Id: RCV001003097
• dbSNP Id: rs1594246708

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081506_24081507insCCGCAGCC , CM000676.2:g.24081506_24081507insCCGCAGCC	GRCh38
NC_000014.8:g.24550715_24550716insCCGCAGCC , CM000676.1:g.24550715_24550716insCCGCAGCC	GRCh37
NC_000014.7:g.23620555_23620556insCCGCAGCC	NCBI36
NG_011697.1:g.8118_8119insGCTGCGGG
NG_011697.2:g.38509_38510insGCTGCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.444_445insGCTGCGGG MANE Select	ENSP00000454062.2:p.Leu149AlafsTer15
ENST00000396995.1:c.27_28insGCTGCGGG	ENSP00000380191.1:p.Leu10AlafsTer15
ENST00000396997.1:c.444_445insGCTGCGGG	ENSP00000380193.1:p.Leu149AlafsTer15
ENST00000397002.6:c.444_445insGCTGCGGG	ENSP00000380197.2:p.Leu149AlafsTer15
ENST00000560550.1:c.27_28insGCTGCGGG	ENSP00000452966.1:p.Leu10AlafsTer15
ENST00000561028.5:c.444_445insGCTGCGGG	ENSP00000454062.1:p.Leu149AlafsTer15
NM_006177.3:c.444_445insGCTGCGGG	NP_006168.1:p.Leu149AlafsTer15
XM_005267708.3:c.444_445insGCTGCGGG	XP_005267765.1:p.Leu149AlafsTer15
XM_005267709.3:c.444_445insGCTGCGGG	XP_005267766.1:p.Leu149AlafsTer15
XM_005267710.3:c.444_445insGCTGCGGG	XP_005267767.1:p.Leu149AlafsTer15
XM_011536801.1:c.543_544insGCTGCGGG	XP_011535103.1:p.Leu182AlafsTer15
XM_011536802.1:c.444_445insGCTGCGGG	XP_011535104.1:p.Leu149AlafsTer15
XM_011536803.1:c.444_445insGCTGCGGG	XP_011535105.1:p.Leu149AlafsTer15
XM_011536804.1:c.444_445insGCTGCGGG	XP_011535106.1:p.Leu149AlafsTer15
XM_011536805.1:c.444_445insGCTGCGGG	XP_011535107.1:p.Leu149AlafsTer15
XM_011536806.1:c.228_229insGCTGCGGG	XP_011535108.1:p.Leu77AlafsTer15
NM_001354768.1:c.444_445insGCTGCGGG	NP_001341697.1:p.Leu149AlafsTer15
NM_001354769.1:c.444_445insGCTGCGGG	NP_001341698.1:p.Leu149AlafsTer15
NM_001354770.1:c.129_130insGCTGCGGG	NP_001341699.1:p.Leu44AlafsTer15
NM_006177.4:c.444_445insGCTGCGGG	NP_006168.1:p.Leu149AlafsTer15
XM_011536801.2:c.750_751insGCTGCGGG	XP_011535103.2:p.Leu251AlafsTer15
XM_011536804.2:c.444_445insGCTGCGGG	XP_011535106.1:p.Leu149AlafsTer15
XM_011536805.2:c.444_445insGCTGCGGG	XP_011535107.1:p.Leu149AlafsTer15
XM_011536806.2:c.435_436insGCTGCGGG	XP_011535108.2:p.Leu146AlafsTer15
NM_001354768.3:c.444_445insGCTGCGGG MANE Select	NP_001341697.1:p.Leu149AlafsTer15
NM_001354770.2:c.129_130insGCTGCGGG	NP_001341699.1:p.Leu44AlafsTer15
NM_006177.5:c.444_445insGCTGCGGG	NP_006168.1:p.Leu149AlafsTer15