Canonical Allele Identifier: CA2800892192
Gene: NRL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24082351_24082404del , CM000676.2:g.24082351_24082404del GRCh38
NC_000014.8:g.24551560_24551613del , CM000676.1:g.24551560_24551613del GRCh37
NC_000014.7:g.23621400_23621453del NCBI36
NG_011697.1:g.7229_7282del
NG_011697.2:g.37620_37673del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561028.6:c.381+73_381+126del MANE Select ENSP00000454062.2:n.381+73_381+126del
ENST00000396997.1:c.381+73_381+126del ENSP00000380193.1:n.381+73_381+126del
ENST00000397002.6:c.381+73_381+126del ENSP00000380197.2:n.381+73_381+126del
ENST00000561028.5:c.381+73_381+126del ENSP00000454062.1:n.381+73_381+126del
NM_006177.3:c.381+73_381+126del NP_006168.1:n.381+73_381+126del
XM_005267708.3:c.381+73_381+126del XP_005267765.1:n.381+73_381+126del
XM_005267709.3:c.381+73_381+126del XP_005267766.1:n.381+73_381+126del
XM_005267710.3:c.381+73_381+126del XP_005267767.1:n.381+73_381+126del
XM_011536801.1:c.480+73_480+126del XP_011535103.1:n.480+73_480+126del
XM_011536802.1:c.381+73_381+126del XP_011535104.1:n.381+73_381+126del
XM_011536803.1:c.381+73_381+126del XP_011535105.1:n.381+73_381+126del
XM_011536804.1:c.381+73_381+126del XP_011535106.1:n.381+73_381+126del
XM_011536805.1:c.381+73_381+126del XP_011535107.1:n.381+73_381+126del
XM_011536806.1:c.165+388_165+441del XP_011535108.1:n.165+388_165+441del
NM_001354768.1:c.381+73_381+126del NP_001341697.1:n.381+73_381+126del
NM_001354769.1:c.381+73_381+126del NP_001341698.1:n.381+73_381+126del
NM_001354770.1:c.66+388_66+441del NP_001341699.1:n.66+388_66+441del
NM_006177.4:c.381+73_381+126del NP_006168.1:n.381+73_381+126del
XM_011536801.2:c.687+73_687+126del XP_011535103.2:n.687+73_687+126del
XM_011536804.2:c.381+73_381+126del XP_011535106.1:n.381+73_381+126del
XM_011536805.2:c.381+73_381+126del XP_011535107.1:n.381+73_381+126del
XM_011536806.2:c.372+388_372+441del XP_011535108.2:n.372+388_372+441del
NM_001354768.3:c.381+73_381+126del MANE Select NP_001341697.1:n.381+73_381+126del
NM_001354770.2:c.66+388_66+441del NP_001341699.1:n.66+388_66+441del
NM_006177.5:c.381+73_381+126del NP_006168.1:n.381+73_381+126del