Canonical Allele Identifier: CA613319079

Gene: NRL

Linked Data

• gnomAD v2: 14-24550477-CG-C
• gnomAD v4: 14-24081268-CG-C
• MyVariant Identifiers: chr14:g.24550478del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081272del , CM000676.2:g.24081272del	GRCh38
NC_000014.8:g.24550481del , CM000676.1:g.24550481del	GRCh37
NC_000014.7:g.23620321del	NCBI36
NG_011697.1:g.8355del
NG_011697.2:g.38746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.681del MANE Select	ENSP00000454062.2:p.Ser229ProfsTer?
ENST00000396995.1:c.264del	ENSP00000380191.1:p.Ser90ProfsTer?
ENST00000396997.1:c.681del	ENSP00000380193.1:p.Ser229ProfsTer?
ENST00000397002.6:c.681del	ENSP00000380197.2:p.Ser229ProfsTer?
ENST00000560550.1:c.264del	ENSP00000452966.1:p.Ser90ProfsTer?
ENST00000561028.5:c.681del	ENSP00000454062.1:p.Ser229ProfsTer?
NM_006177.3:c.681del	NP_006168.1:p.Ser229ProfsTer?
XM_005267708.3:c.681del	XP_005267765.1:p.Ser229ProfsTer?
XM_005267709.3:c.681del	XP_005267766.1:p.Ser229ProfsTer?
XM_005267710.3:c.681del	XP_005267767.1:p.Ser229ProfsTer?
XM_011536801.1:c.780del	XP_011535103.1:p.Ser262ProfsTer?
XM_011536802.1:c.681del	XP_011535104.1:p.Ser229ProfsTer?
XM_011536803.1:c.681del	XP_011535105.1:p.Ser229ProfsTer?
XM_011536804.1:c.681del	XP_011535106.1:p.Ser229ProfsTer?
XM_011536805.1:c.681del	XP_011535107.1:p.Ser229ProfsTer?
XM_011536806.1:c.465del	XP_011535108.1:p.Ser157ProfsTer?
NM_001354768.1:c.681del	NP_001341697.1:p.Ser229ProfsTer?
NM_001354769.1:c.681del	NP_001341698.1:p.Ser229ProfsTer?
NM_001354770.1:c.366del	NP_001341699.1:p.Ser124ProfsTer?
NM_006177.4:c.681del	NP_006168.1:p.Ser229ProfsTer?
XM_011536801.2:c.987del	XP_011535103.2:p.Ser331ProfsTer?
XM_011536804.2:c.681del	XP_011535106.1:p.Ser229ProfsTer?
XM_011536805.2:c.681del	XP_011535107.1:p.Ser229ProfsTer?
XM_011536806.2:c.672del	XP_011535108.2:p.Ser226ProfsTer?
NM_001354768.3:c.681del MANE Select	NP_001341697.1:p.Ser229ProfsTer?
NM_001354770.2:c.366del	NP_001341699.1:p.Ser124ProfsTer?
NM_006177.5:c.681del	NP_006168.1:p.Ser229ProfsTer?