Canonical Allele Identifier: CA2800892058

Gene: NRL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081561del , CM000676.2:g.24081561del	GRCh38
NC_000014.8:g.24550770del , CM000676.1:g.24550770del	GRCh37
NC_000014.7:g.23620610del	NCBI36
NG_011697.1:g.8063del
NG_011697.2:g.38454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.389del MANE Select	ENSP00000454062.2:p.Glu130GlyfsTer16
ENST00000396995.1:c.-29del	ENSP00000380191.1:n.-29del
ENST00000396997.1:c.389del	ENSP00000380193.1:p.Glu130GlyfsTer16
ENST00000397002.6:c.389del	ENSP00000380197.2:p.Glu130GlyfsTer16
ENST00000560550.1:c.-29del	ENSP00000452966.1:n.-29del
ENST00000561028.5:c.389del	ENSP00000454062.1:p.Glu130GlyfsTer16
NM_006177.3:c.389del	NP_006168.1:p.Glu130GlyfsTer16
XM_005267708.3:c.389del	XP_005267765.1:p.Glu130GlyfsTer16
XM_005267709.3:c.389del	XP_005267766.1:p.Glu130GlyfsTer16
XM_005267710.3:c.389del	XP_005267767.1:p.Glu130GlyfsTer16
XM_011536801.1:c.488del	XP_011535103.1:p.Glu163GlyfsTer16
XM_011536802.1:c.389del	XP_011535104.1:p.Glu130GlyfsTer16
XM_011536803.1:c.389del	XP_011535105.1:p.Glu130GlyfsTer16
XM_011536804.1:c.389del	XP_011535106.1:p.Glu130GlyfsTer16
XM_011536805.1:c.389del	XP_011535107.1:p.Glu130GlyfsTer16
XM_011536806.1:c.173del	XP_011535108.1:p.Glu58GlyfsTer16
NM_001354768.1:c.389del	NP_001341697.1:p.Glu130GlyfsTer16
NM_001354769.1:c.389del	NP_001341698.1:p.Glu130GlyfsTer16
NM_001354770.1:c.74del	NP_001341699.1:p.Glu25GlyfsTer16
NM_006177.4:c.389del	NP_006168.1:p.Glu130GlyfsTer16
XM_011536801.2:c.695del	XP_011535103.2:p.Glu232GlyfsTer16
XM_011536804.2:c.389del	XP_011535106.1:p.Glu130GlyfsTer16
XM_011536805.2:c.389del	XP_011535107.1:p.Glu130GlyfsTer16
XM_011536806.2:c.380del	XP_011535108.2:p.Glu127GlyfsTer16
NM_001354768.3:c.389del MANE Select	NP_001341697.1:p.Glu130GlyfsTer16
NM_001354770.2:c.74del	NP_001341699.1:p.Glu25GlyfsTer16
NM_006177.5:c.389del	NP_006168.1:p.Glu130GlyfsTer16