Canonical Allele Identifier: CA2624297648

Gene: NRL

Linked Data

• gnomAD v4: 14-24081252-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081253del , CM000676.2:g.24081253del	GRCh38
NC_000014.8:g.24550462del , CM000676.1:g.24550462del	GRCh37
NC_000014.7:g.23620302del	NCBI36
NG_011697.1:g.8371del
NG_011697.2:g.38762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.697del MANE Select	ENSP00000454062.2:p.Ser233ProfsTer?
ENST00000396995.1:c.280del	ENSP00000380191.1:p.Ser94ProfsTer?
ENST00000396997.1:c.697del	ENSP00000380193.1:p.Ser233ProfsTer?
ENST00000397002.6:c.697del	ENSP00000380197.2:p.Ser233ProfsTer?
ENST00000560550.1:c.280del	ENSP00000452966.1:p.Ser94ProfsTer?
ENST00000561028.5:c.697del	ENSP00000454062.1:p.Ser233ProfsTer?
NM_006177.3:c.697del	NP_006168.1:p.Ser233ProfsTer?
XM_005267708.3:c.697del	XP_005267765.1:p.Ser233ProfsTer?
XM_005267709.3:c.697del	XP_005267766.1:p.Ser233ProfsTer?
XM_005267710.3:c.697del	XP_005267767.1:p.Ser233ProfsTer?
XM_011536801.1:c.796del	XP_011535103.1:p.Ser266ProfsTer?
XM_011536802.1:c.697del	XP_011535104.1:p.Ser233ProfsTer?
XM_011536803.1:c.697del	XP_011535105.1:p.Ser233ProfsTer?
XM_011536804.1:c.697del	XP_011535106.1:p.Ser233ProfsTer?
XM_011536805.1:c.697del	XP_011535107.1:p.Ser233ProfsTer?
XM_011536806.1:c.481del	XP_011535108.1:p.Ser161ProfsTer?
NM_001354768.1:c.697del	NP_001341697.1:p.Ser233ProfsTer?
NM_001354769.1:c.697del	NP_001341698.1:p.Ser233ProfsTer?
NM_001354770.1:c.382del	NP_001341699.1:p.Ser128ProfsTer?
NM_006177.4:c.697del	NP_006168.1:p.Ser233ProfsTer?
XM_011536801.2:c.1003del	XP_011535103.2:p.Ser335ProfsTer?
XM_011536804.2:c.697del	XP_011535106.1:p.Ser233ProfsTer?
XM_011536805.2:c.697del	XP_011535107.1:p.Ser233ProfsTer?
XM_011536806.2:c.688del	XP_011535108.2:p.Ser230ProfsTer?
NM_001354768.3:c.697del MANE Select	NP_001341697.1:p.Ser233ProfsTer?
NM_001354770.2:c.382del	NP_001341699.1:p.Ser128ProfsTer?
NM_006177.5:c.697del	NP_006168.1:p.Ser233ProfsTer?