Canonical Allele Identifier: CA2624298569

Gene: NRL

Linked Data

• gnomAD v4: 14-24081457-G-GGCGCCTCTGCTTCAGCCGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081465_24081484dup , CM000676.2:g.24081465_24081484dup	GRCh38
NC_000014.8:g.24550674_24550693dup , CM000676.1:g.24550674_24550693dup	GRCh37
NC_000014.7:g.23620514_23620533dup	NCBI36
NG_011697.1:g.8147_8166dup
NG_011697.2:g.38538_38557dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561028.6:c.473_492dup MANE Select	ENSP00000454062.2:p.Arg165CysfsTer3
ENST00000396995.1:c.56_75dup	ENSP00000380191.1:p.Arg26CysfsTer3
ENST00000396997.1:c.473_492dup	ENSP00000380193.1:p.Arg165CysfsTer3
ENST00000397002.6:c.473_492dup	ENSP00000380197.2:p.Arg165CysfsTer3
ENST00000560550.1:c.56_75dup	ENSP00000452966.1:p.Arg26CysfsTer3
ENST00000561028.5:c.473_492dup	ENSP00000454062.1:p.Arg165CysfsTer3
NM_006177.3:c.473_492dup	NP_006168.1:p.Arg165CysfsTer3
XM_005267708.3:c.473_492dup	XP_005267765.1:p.Arg165CysfsTer3
XM_005267709.3:c.473_492dup	XP_005267766.1:p.Arg165CysfsTer3
XM_005267710.3:c.473_492dup	XP_005267767.1:p.Arg165CysfsTer3
XM_011536801.1:c.572_591dup	XP_011535103.1:p.Arg198CysfsTer3
XM_011536802.1:c.473_492dup	XP_011535104.1:p.Arg165CysfsTer3
XM_011536803.1:c.473_492dup	XP_011535105.1:p.Arg165CysfsTer3
XM_011536804.1:c.473_492dup	XP_011535106.1:p.Arg165CysfsTer3
XM_011536805.1:c.473_492dup	XP_011535107.1:p.Arg165CysfsTer3
XM_011536806.1:c.257_276dup	XP_011535108.1:p.Arg93CysfsTer3
NM_001354768.1:c.473_492dup	NP_001341697.1:p.Arg165CysfsTer3
NM_001354769.1:c.473_492dup	NP_001341698.1:p.Arg165CysfsTer3
NM_001354770.1:c.158_177dup	NP_001341699.1:p.Arg60CysfsTer3
NM_006177.4:c.473_492dup	NP_006168.1:p.Arg165CysfsTer3
XM_011536801.2:c.779_798dup	XP_011535103.2:p.Arg267CysfsTer3
XM_011536804.2:c.473_492dup	XP_011535106.1:p.Arg165CysfsTer3
XM_011536805.2:c.473_492dup	XP_011535107.1:p.Arg165CysfsTer3
XM_011536806.2:c.464_483dup	XP_011535108.2:p.Arg162CysfsTer3
NM_001354768.3:c.473_492dup MANE Select	NP_001341697.1:p.Arg165CysfsTer3
NM_001354770.2:c.158_177dup	NP_001341699.1:p.Arg60CysfsTer3
NM_006177.5:c.473_492dup	NP_006168.1:p.Arg165CysfsTer3