Canonical Allele Identifier: CA2624299101

Gene: NRL

Linked Data

• gnomAD v4: 14-24081563-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081564del , CM000676.2:g.24081564del	GRCh38
NC_000014.8:g.24550773del , CM000676.1:g.24550773del	GRCh37
NC_000014.7:g.23620613del	NCBI36
NG_011697.1:g.8060del
NG_011697.2:g.38451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.386del MANE Select	ENSP00000454062.2:p.Ala129GlufsTer17
ENST00000396995.1:c.-32del	ENSP00000380191.1:n.-32del
ENST00000396997.1:c.386del	ENSP00000380193.1:p.Ala129GlufsTer17
ENST00000397002.6:c.386del	ENSP00000380197.2:p.Ala129GlufsTer17
ENST00000560550.1:c.-32del	ENSP00000452966.1:n.-32del
ENST00000561028.5:c.386del	ENSP00000454062.1:p.Ala129GlufsTer17
NM_006177.3:c.386del	NP_006168.1:p.Ala129GlufsTer17
XM_005267708.3:c.386del	XP_005267765.1:p.Ala129GlufsTer17
XM_005267709.3:c.386del	XP_005267766.1:p.Ala129GlufsTer17
XM_005267710.3:c.386del	XP_005267767.1:p.Ala129GlufsTer17
XM_011536801.1:c.485del	XP_011535103.1:p.Ala162GlufsTer17
XM_011536802.1:c.386del	XP_011535104.1:p.Ala129GlufsTer17
XM_011536803.1:c.386del	XP_011535105.1:p.Ala129GlufsTer17
XM_011536804.1:c.386del	XP_011535106.1:p.Ala129GlufsTer17
XM_011536805.1:c.386del	XP_011535107.1:p.Ala129GlufsTer17
XM_011536806.1:c.170del	XP_011535108.1:p.Ala57GlufsTer17
NM_001354768.1:c.386del	NP_001341697.1:p.Ala129GlufsTer17
NM_001354769.1:c.386del	NP_001341698.1:p.Ala129GlufsTer17
NM_001354770.1:c.71del	NP_001341699.1:p.Ala24GlufsTer17
NM_006177.4:c.386del	NP_006168.1:p.Ala129GlufsTer17
XM_011536801.2:c.692del	XP_011535103.2:p.Ala231GlufsTer17
XM_011536804.2:c.386del	XP_011535106.1:p.Ala129GlufsTer17
XM_011536805.2:c.386del	XP_011535107.1:p.Ala129GlufsTer17
XM_011536806.2:c.377del	XP_011535108.2:p.Ala126GlufsTer17
NM_001354768.3:c.386del MANE Select	NP_001341697.1:p.Ala129GlufsTer17
NM_001354770.2:c.71del	NP_001341699.1:p.Ala24GlufsTer17
NM_006177.5:c.386del	NP_006168.1:p.Ala129GlufsTer17