Canonical Allele Identifier: CA2624297822

Gene: NRL

Linked Data

• gnomAD v4: 14-24081286-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081288del , CM000676.2:g.24081288del	GRCh38
NC_000014.8:g.24550497del , CM000676.1:g.24550497del	GRCh37
NC_000014.7:g.23620337del	NCBI36
NG_011697.1:g.8337del
NG_011697.2:g.38728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.663del MANE Select	ENSP00000454062.2:p.Leu222Ter
ENST00000396995.1:c.246del	ENSP00000380191.1:p.Leu83Ter
ENST00000396997.1:c.663del	ENSP00000380193.1:p.Leu222Ter
ENST00000397002.6:c.663del	ENSP00000380197.2:p.Leu222Ter
ENST00000560550.1:c.246del	ENSP00000452966.1:p.Leu83Ter
ENST00000561028.5:c.663del	ENSP00000454062.1:p.Leu222Ter
NM_006177.3:c.663del	NP_006168.1:p.Leu222Ter
XM_005267708.3:c.663del	XP_005267765.1:p.Leu222Ter
XM_005267709.3:c.663del	XP_005267766.1:p.Leu222Ter
XM_005267710.3:c.663del	XP_005267767.1:p.Leu222Ter
XM_011536801.1:c.762del	XP_011535103.1:p.Leu255Ter
XM_011536802.1:c.663del	XP_011535104.1:p.Leu222Ter
XM_011536803.1:c.663del	XP_011535105.1:p.Leu222Ter
XM_011536804.1:c.663del	XP_011535106.1:p.Leu222Ter
XM_011536805.1:c.663del	XP_011535107.1:p.Leu222Ter
XM_011536806.1:c.447del	XP_011535108.1:p.Leu150Ter
NM_001354768.1:c.663del	NP_001341697.1:p.Leu222Ter
NM_001354769.1:c.663del	NP_001341698.1:p.Leu222Ter
NM_001354770.1:c.348del	NP_001341699.1:p.Leu117Ter
NM_006177.4:c.663del	NP_006168.1:p.Leu222Ter
XM_011536801.2:c.969del	XP_011535103.2:p.Leu324Ter
XM_011536804.2:c.663del	XP_011535106.1:p.Leu222Ter
XM_011536805.2:c.663del	XP_011535107.1:p.Leu222Ter
XM_011536806.2:c.654del	XP_011535108.2:p.Leu219Ter
NM_001354768.3:c.663del MANE Select	NP_001341697.1:p.Leu222Ter
NM_001354770.2:c.348del	NP_001341699.1:p.Leu117Ter
NM_006177.5:c.663del	NP_006168.1:p.Leu222Ter