Canonical Allele Identifier: CA2800892055

Gene: NRL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081241_24081242del , CM000676.2:g.24081241_24081242del	GRCh38
NC_000014.8:g.24550450_24550451del , CM000676.1:g.24550450_24550451del	GRCh37
NC_000014.7:g.23620290_23620291del	NCBI36
NG_011697.1:g.8382_8383del
NG_011697.2:g.38773_38774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.708_709del MANE Select	ENSP00000454062.2:p.Ter238SerextTer9
ENST00000396995.1:c.291_292del	ENSP00000380191.1:p.Ter99SerextTer9
ENST00000396997.1:c.708_709del	ENSP00000380193.1:p.Ter238SerextTer9
ENST00000397002.6:c.708_709del	ENSP00000380197.2:p.Ter238SerextTer9
ENST00000560550.1:c.291_292del	ENSP00000452966.1:p.Ter99SerextTer9
ENST00000561028.5:c.708_709del	ENSP00000454062.1:p.Ter238SerextTer9
NM_006177.3:c.708_709del	NP_006168.1:p.Ter238SerextTer9
XM_005267708.3:c.708_709del	XP_005267765.1:p.Ter238SerextTer9
XM_005267709.3:c.708_709del	XP_005267766.1:p.Ter238SerextTer9
XM_005267710.3:c.708_709del	XP_005267767.1:p.Ter238SerextTer9
XM_011536801.1:c.807_808del	XP_011535103.1:p.Ter271SerextTer9
XM_011536802.1:c.708_709del	XP_011535104.1:p.Ter238SerextTer9
XM_011536803.1:c.708_709del	XP_011535105.1:p.Ter238SerextTer9
XM_011536804.1:c.708_709del	XP_011535106.1:p.Ter238SerextTer9
XM_011536805.1:c.708_709del	XP_011535107.1:p.Ter238SerextTer9
XM_011536806.1:c.492_493del	XP_011535108.1:p.Ter166SerextTer9
NM_001354768.1:c.708_709del	NP_001341697.1:p.Ter238SerextTer9
NM_001354769.1:c.708_709del	NP_001341698.1:p.Ter238SerextTer9
NM_001354770.1:c.393_394del	NP_001341699.1:p.Ter133SerextTer9
NM_006177.4:c.708_709del	NP_006168.1:p.Ter238SerextTer9
XM_011536801.2:c.1014_1015del	XP_011535103.2:p.Ter340SerextTer9
XM_011536804.2:c.708_709del	XP_011535106.1:p.Ter238SerextTer9
XM_011536805.2:c.708_709del	XP_011535107.1:p.Ter238SerextTer9
XM_011536806.2:c.699_700del	XP_011535108.2:p.Ter235SerextTer9
NM_001354768.3:c.708_709del MANE Select	NP_001341697.1:p.Ter238SerextTer9
NM_001354770.2:c.393_394del	NP_001341699.1:p.Ter133SerextTer9
NM_006177.5:c.708_709del	NP_006168.1:p.Ter238SerextTer9