Canonical Allele Identifier: CA2695219230

Gene: NRL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082701_24082703del , CM000676.2:g.24082701_24082703del	GRCh38
NC_000014.8:g.24551910_24551912del , CM000676.1:g.24551910_24551912del	GRCh37
NC_000014.7:g.23621750_23621752del	NCBI36
NG_011697.1:g.6922_6924del
NG_011697.2:g.37313_37315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.147_149del MANE Select	ENSP00000454062.2:p.Ser50del
ENST00000396997.1:c.147_149del	ENSP00000380193.1:p.Ser50del
ENST00000397002.6:c.147_149del	ENSP00000380197.2:p.Ser50del
ENST00000558280.1:c.147_149del	ENSP00000454180.1:p.Ser50del
ENST00000561028.5:c.147_149del	ENSP00000454062.1:p.Ser50del
NM_006177.3:c.147_149del	NP_006168.1:p.Ser50del
XM_005267708.3:c.147_149del	XP_005267765.1:p.Ser50del
XM_005267709.3:c.147_149del	XP_005267766.1:p.Ser50del
XM_005267710.3:c.147_149del	XP_005267767.1:p.Ser50del
XM_011536801.1:c.246_248del	XP_011535103.1:p.Ser83del
XM_011536802.1:c.147_149del	XP_011535104.1:p.Ser50del
XM_011536803.1:c.147_149del	XP_011535105.1:p.Ser50del
XM_011536804.1:c.147_149del	XP_011535106.1:p.Ser50del
XM_011536805.1:c.147_149del	XP_011535107.1:p.Ser50del
XM_011536806.1:c.165+81_165+83del	XP_011535108.1:n.165+81_165+83del
NM_001354768.1:c.147_149del	NP_001341697.1:p.Ser50del
NM_001354769.1:c.147_149del	NP_001341698.1:p.Ser50del
NM_001354770.1:c.66+81_66+83del	NP_001341699.1:n.66+81_66+83del
NM_006177.4:c.147_149del	NP_006168.1:p.Ser50del
XM_011536801.2:c.453_455del	XP_011535103.2:p.Ser152del
XM_011536804.2:c.147_149del	XP_011535106.1:p.Ser50del
XM_011536805.2:c.147_149del	XP_011535107.1:p.Ser50del
XM_011536806.2:c.372+81_372+83del	XP_011535108.2:n.372+81_372+83del
NM_001354768.3:c.147_149del MANE Select	NP_001341697.1:p.Ser50del
NM_001354770.2:c.66+81_66+83del	NP_001341699.1:n.66+81_66+83del
NM_006177.5:c.147_149del	NP_006168.1:p.Ser50del