Canonical Allele Identifier: CA2800892059

Gene: NRL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081562_24081563insAG , CM000676.2:g.24081562_24081563insAG	GRCh38
NC_000014.8:g.24550771_24550772insAG , CM000676.1:g.24550771_24550772insAG	GRCh37
NC_000014.7:g.23620611_23620612insAG	NCBI36
NG_011697.1:g.8061_8062insCT
NG_011697.2:g.38452_38453insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.387_388insCT MANE Select	ENSP00000454062.2:p.Glu130LeufsTer17
ENST00000396995.1:c.-31_-30insCT	ENSP00000380191.1:n.-31_-30insCT
ENST00000396997.1:c.387_388insCT	ENSP00000380193.1:p.Glu130LeufsTer17
ENST00000397002.6:c.387_388insCT	ENSP00000380197.2:p.Glu130LeufsTer17
ENST00000560550.1:c.-31_-30insCT	ENSP00000452966.1:n.-31_-30insCT
ENST00000561028.5:c.387_388insCT	ENSP00000454062.1:p.Glu130LeufsTer17
NM_006177.3:c.387_388insCT	NP_006168.1:p.Glu130LeufsTer17
XM_005267708.3:c.387_388insCT	XP_005267765.1:p.Glu130LeufsTer17
XM_005267709.3:c.387_388insCT	XP_005267766.1:p.Glu130LeufsTer17
XM_005267710.3:c.387_388insCT	XP_005267767.1:p.Glu130LeufsTer17
XM_011536801.1:c.486_487insCT	XP_011535103.1:p.Glu163LeufsTer17
XM_011536802.1:c.387_388insCT	XP_011535104.1:p.Glu130LeufsTer17
XM_011536803.1:c.387_388insCT	XP_011535105.1:p.Glu130LeufsTer17
XM_011536804.1:c.387_388insCT	XP_011535106.1:p.Glu130LeufsTer17
XM_011536805.1:c.387_388insCT	XP_011535107.1:p.Glu130LeufsTer17
XM_011536806.1:c.171_172insCT	XP_011535108.1:p.Glu58LeufsTer17
NM_001354768.1:c.387_388insCT	NP_001341697.1:p.Glu130LeufsTer17
NM_001354769.1:c.387_388insCT	NP_001341698.1:p.Glu130LeufsTer17
NM_001354770.1:c.72_73insCT	NP_001341699.1:p.Glu25LeufsTer17
NM_006177.4:c.387_388insCT	NP_006168.1:p.Glu130LeufsTer17
XM_011536801.2:c.693_694insCT	XP_011535103.2:p.Glu232LeufsTer17
XM_011536804.2:c.387_388insCT	XP_011535106.1:p.Glu130LeufsTer17
XM_011536805.2:c.387_388insCT	XP_011535107.1:p.Glu130LeufsTer17
XM_011536806.2:c.378_379insCT	XP_011535108.2:p.Glu127LeufsTer17
NM_001354768.3:c.387_388insCT MANE Select	NP_001341697.1:p.Glu130LeufsTer17
NM_001354770.2:c.72_73insCT	NP_001341699.1:p.Glu25LeufsTer17
NM_006177.5:c.387_388insCT	NP_006168.1:p.Glu130LeufsTer17