Canonical Allele Identifier: CA2624298208

Gene: NRL

Linked Data

• gnomAD v4: 14-24081369-A-AGGCGGGCGCGCTCGGCCTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081370_24081389dup , CM000676.2:g.24081370_24081389dup	GRCh38
NC_000014.8:g.24550579_24550598dup , CM000676.1:g.24550579_24550598dup	GRCh37
NC_000014.7:g.23620419_23620438dup	NCBI36
NG_011697.1:g.8235_8254dup
NG_011697.2:g.38626_38645dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.561_580dup MANE Select	ENSP00000454062.2:p.Leu194ArgfsTer36
ENST00000396995.1:c.144_163dup	ENSP00000380191.1:p.Leu55ArgfsTer36
ENST00000396997.1:c.561_580dup	ENSP00000380193.1:p.Leu194ArgfsTer36
ENST00000397002.6:c.561_580dup	ENSP00000380197.2:p.Leu194ArgfsTer36
ENST00000560550.1:c.144_163dup	ENSP00000452966.1:p.Leu55ArgfsTer36
ENST00000561028.5:c.561_580dup	ENSP00000454062.1:p.Leu194ArgfsTer36
NM_006177.3:c.561_580dup	NP_006168.1:p.Leu194ArgfsTer36
XM_005267708.3:c.561_580dup	XP_005267765.1:p.Leu194ArgfsTer36
XM_005267709.3:c.561_580dup	XP_005267766.1:p.Leu194ArgfsTer36
XM_005267710.3:c.561_580dup	XP_005267767.1:p.Leu194ArgfsTer36
XM_011536801.1:c.660_679dup	XP_011535103.1:p.Leu227ArgfsTer36
XM_011536802.1:c.561_580dup	XP_011535104.1:p.Leu194ArgfsTer36
XM_011536803.1:c.561_580dup	XP_011535105.1:p.Leu194ArgfsTer36
XM_011536804.1:c.561_580dup	XP_011535106.1:p.Leu194ArgfsTer36
XM_011536805.1:c.561_580dup	XP_011535107.1:p.Leu194ArgfsTer36
XM_011536806.1:c.345_364dup	XP_011535108.1:p.Leu122ArgfsTer36
NM_001354768.1:c.561_580dup	NP_001341697.1:p.Leu194ArgfsTer36
NM_001354769.1:c.561_580dup	NP_001341698.1:p.Leu194ArgfsTer36
NM_001354770.1:c.246_265dup	NP_001341699.1:p.Leu89ArgfsTer36
NM_006177.4:c.561_580dup	NP_006168.1:p.Leu194ArgfsTer36
XM_011536801.2:c.867_886dup	XP_011535103.2:p.Leu296ArgfsTer36
XM_011536804.2:c.561_580dup	XP_011535106.1:p.Leu194ArgfsTer36
XM_011536805.2:c.561_580dup	XP_011535107.1:p.Leu194ArgfsTer36
XM_011536806.2:c.552_571dup	XP_011535108.2:p.Leu191ArgfsTer36
NM_001354768.3:c.561_580dup MANE Select	NP_001341697.1:p.Leu194ArgfsTer36
NM_001354770.2:c.246_265dup	NP_001341699.1:p.Leu89ArgfsTer36
NM_006177.5:c.561_580dup	NP_006168.1:p.Leu194ArgfsTer36