Canonical Allele Identifier: CA2123777850

Gene: NRL

Linked Data

• dbSNP Id: rs2036296052
• gnomAD v4: 14-24081490-GCCCGCAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081499_24081506del , CM000676.2:g.24081499_24081506del	GRCh38
NC_000014.8:g.24550708_24550715del , CM000676.1:g.24550708_24550715del	GRCh37
NC_000014.7:g.23620548_23620555del	NCBI36
NG_011697.1:g.8126_8133del
NG_011697.2:g.38517_38524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.452_459del MANE Select	ENSP00000454062.2:p.Gly151AlafsTer?
ENST00000396995.1:c.35_42del	ENSP00000380191.1:p.Gly12AlafsTer?
ENST00000396997.1:c.452_459del	ENSP00000380193.1:p.Gly151AlafsTer?
ENST00000397002.6:c.452_459del	ENSP00000380197.2:p.Gly151AlafsTer?
ENST00000560550.1:c.35_42del	ENSP00000452966.1:p.Gly12AlafsTer?
ENST00000561028.5:c.452_459del	ENSP00000454062.1:p.Gly151AlafsTer?
NM_006177.3:c.452_459del	NP_006168.1:p.Gly151AlafsTer?
XM_005267708.3:c.452_459del	XP_005267765.1:p.Gly151AlafsTer?
XM_005267709.3:c.452_459del	XP_005267766.1:p.Gly151AlafsTer?
XM_005267710.3:c.452_459del	XP_005267767.1:p.Gly151AlafsTer?
XM_011536801.1:c.551_558del	XP_011535103.1:p.Gly184AlafsTer?
XM_011536802.1:c.452_459del	XP_011535104.1:p.Gly151AlafsTer?
XM_011536803.1:c.452_459del	XP_011535105.1:p.Gly151AlafsTer?
XM_011536804.1:c.452_459del	XP_011535106.1:p.Gly151AlafsTer?
XM_011536805.1:c.452_459del	XP_011535107.1:p.Gly151AlafsTer?
XM_011536806.1:c.236_243del	XP_011535108.1:p.Gly79AlafsTer?
NM_001354768.1:c.452_459del	NP_001341697.1:p.Gly151AlafsTer?
NM_001354769.1:c.452_459del	NP_001341698.1:p.Gly151AlafsTer?
NM_001354770.1:c.137_144del	NP_001341699.1:p.Gly46AlafsTer?
NM_006177.4:c.452_459del	NP_006168.1:p.Gly151AlafsTer?
XM_011536801.2:c.758_765del	XP_011535103.2:p.Gly253AlafsTer?
XM_011536804.2:c.452_459del	XP_011535106.1:p.Gly151AlafsTer?
XM_011536805.2:c.452_459del	XP_011535107.1:p.Gly151AlafsTer?
XM_011536806.2:c.443_450del	XP_011535108.2:p.Gly148AlafsTer?
NM_001354768.3:c.452_459del MANE Select	NP_001341697.1:p.Gly151AlafsTer?
NM_001354770.2:c.137_144del	NP_001341699.1:p.Gly46AlafsTer?
NM_006177.5:c.452_459del	NP_006168.1:p.Gly151AlafsTer?