Canonical Allele Identifier: CA10581692

Gene: NRL

Linked Data

• ClinVar Variation Id: 236457
• ClinVar RCV Id: RCV000225403
• dbSNP Id: rs878853356
• MyVariant Identifiers: chr14:g.24550532_24550573dup42 (hg19) ; chr14:g.24550531_24550532insGGCCAGGCGGGCCACCTCGGCCCGCAGCGCGTCCAGCTGGGC (hg19) ; chr14:g.24081323_24081364dup42 (hg38) ; chr14:g.24081322_24081323insGGCCAGGCGGGCCACCTCGGCCCGCAGCGCGTCCAGCTGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081335_24081376dup , CM000676.2:g.24081335_24081376dup	GRCh38
NC_000014.8:g.24550544_24550585dup , CM000676.1:g.24550544_24550585dup	GRCh37
NC_000014.7:g.23620384_23620425dup	NCBI36
NG_011697.1:g.8260_8301dup
NG_011697.2:g.38651_38692dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.586_627dup MANE Select	ENSP00000454062.2:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaG...
ENST00000396995.1:c.169_210dup	ENSP00000380191.1:p.Ala70_Arg71insAlaGlnLeuAspAlaLeuArgAlaGlu...
ENST00000396997.1:c.586_627dup	ENSP00000380193.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaG...
ENST00000397002.6:c.586_627dup	ENSP00000380197.2:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaG...
ENST00000560550.1:c.169_210dup	ENSP00000452966.1:p.Ala70_Arg71insAlaGlnLeuAspAlaLeuArgAlaGlu...
ENST00000561028.5:c.586_627dup	ENSP00000454062.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaG...
NM_006177.3:c.586_627dup	NP_006168.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluValA...
XM_005267708.3:c.586_627dup	XP_005267765.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluV...
XM_005267709.3:c.586_627dup	XP_005267766.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluV...
XM_005267710.3:c.586_627dup	XP_005267767.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluV...
XM_011536801.1:c.685_726dup	XP_011535103.1:p.Ala242_Arg243insAlaGlnLeuAspAlaLeuArgAlaGluV...
XM_011536802.1:c.586_627dup	XP_011535104.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluV...
XM_011536803.1:c.586_627dup	XP_011535105.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluV...
XM_011536804.1:c.586_627dup	XP_011535106.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluV...
XM_011536805.1:c.586_627dup	XP_011535107.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluV...
XM_011536806.1:c.370_411dup	XP_011535108.1:p.Ala137_Arg138insAlaGlnLeuAspAlaLeuArgAlaGluV...
NM_001354768.1:c.586_627dup	NP_001341697.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluV...
NM_001354769.1:c.586_627dup	NP_001341698.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluV...
NM_001354770.1:c.271_312dup	NP_001341699.1:p.Ala104_Arg105insAlaGlnLeuAspAlaLeuArgAlaGluV...
NM_006177.4:c.586_627dup	NP_006168.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluValA...
XM_011536801.2:c.892_933dup	XP_011535103.2:p.Ala311_Arg312insAlaGlnLeuAspAlaLeuArgAlaGluV...
XM_011536804.2:c.586_627dup	XP_011535106.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluV...
XM_011536805.2:c.586_627dup	XP_011535107.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluV...
XM_011536806.2:c.577_618dup	XP_011535108.2:p.Ala206_Arg207insAlaGlnLeuAspAlaLeuArgAlaGluV...
NM_001354768.3:c.586_627dup MANE Select	NP_001341697.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluV...
NM_001354770.2:c.271_312dup	NP_001341699.1:p.Ala104_Arg105insAlaGlnLeuAspAlaLeuArgAlaGluV...
NM_006177.5:c.586_627dup	NP_006168.1:p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluValA...