Canonical Allele Identifier: CA2573149791

Gene: NRL

Linked Data

• ClinVar Variation Id: 1395570
• ClinVar RCV Id: RCV001901207
• dbSNP Id: rs2138874584

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082503del , CM000676.2:g.24082503del	GRCh38
NC_000014.8:g.24551712del , CM000676.1:g.24551712del	GRCh37
NC_000014.7:g.23621552del	NCBI36
NG_011697.1:g.7123del
NG_011697.2:g.37514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.348del MANE Select	ENSP00000454062.2:p.Ser117AlafsTer29
ENST00000396997.1:c.348del	ENSP00000380193.1:p.Ser117AlafsTer29
ENST00000397002.6:c.348del	ENSP00000380197.2:p.Ser117AlafsTer29
ENST00000561028.5:c.348del	ENSP00000454062.1:p.Ser117AlafsTer29
NM_006177.3:c.348del	NP_006168.1:p.Ser117AlafsTer29
XM_005267708.3:c.348del	XP_005267765.1:p.Ser117AlafsTer29
XM_005267709.3:c.348del	XP_005267766.1:p.Ser117AlafsTer29
XM_005267710.3:c.348del	XP_005267767.1:p.Ser117AlafsTer29
XM_011536801.1:c.447del	XP_011535103.1:p.Ser150AlafsTer29
XM_011536802.1:c.348del	XP_011535104.1:p.Ser117AlafsTer29
XM_011536803.1:c.348del	XP_011535105.1:p.Ser117AlafsTer29
XM_011536804.1:c.348del	XP_011535106.1:p.Ser117AlafsTer29
XM_011536805.1:c.348del	XP_011535107.1:p.Ser117AlafsTer29
XM_011536806.1:c.165+282del	XP_011535108.1:n.165+282del
NM_001354768.1:c.348del	NP_001341697.1:p.Ser117AlafsTer29
NM_001354769.1:c.348del	NP_001341698.1:p.Ser117AlafsTer29
NM_001354770.1:c.66+282del	NP_001341699.1:n.66+282del
NM_006177.4:c.348del	NP_006168.1:p.Ser117AlafsTer29
XM_011536801.2:c.654del	XP_011535103.2:p.Ser219AlafsTer29
XM_011536804.2:c.348del	XP_011535106.1:p.Ser117AlafsTer29
XM_011536805.2:c.348del	XP_011535107.1:p.Ser117AlafsTer29
XM_011536806.2:c.372+282del	XP_011535108.2:n.372+282del
NM_001354768.3:c.348del MANE Select	NP_001341697.1:p.Ser117AlafsTer29
NM_001354770.2:c.66+282del	NP_001341699.1:n.66+282del
NM_006177.5:c.348del	NP_006168.1:p.Ser117AlafsTer29