Canonical Allele Identifier: CA2624298089

Gene: NRL

Linked Data

• gnomAD v4: 14-24081337-CCTCGGCCCGCAGCGCGTCCAGCTGGGCGGCCAGGCGGGCGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081345_24081386del , CM000676.2:g.24081345_24081386del	GRCh38
NC_000014.8:g.24550554_24550595del , CM000676.1:g.24550554_24550595del	GRCh37
NC_000014.7:g.23620394_23620435del	NCBI36
NG_011697.1:g.8245_8286del
NG_011697.2:g.38636_38677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.571_612del MANE Select	ENSP00000454062.2:p.Arg191_Glu204del
ENST00000396995.1:c.154_195del	ENSP00000380191.1:p.Arg52_Glu65del
ENST00000396997.1:c.571_612del	ENSP00000380193.1:p.Arg191_Glu204del
ENST00000397002.6:c.571_612del	ENSP00000380197.2:p.Arg191_Glu204del
ENST00000560550.1:c.154_195del	ENSP00000452966.1:p.Arg52_Glu65del
ENST00000561028.5:c.571_612del	ENSP00000454062.1:p.Arg191_Glu204del
NM_006177.3:c.571_612del	NP_006168.1:p.Arg191_Glu204del
XM_005267708.3:c.571_612del	XP_005267765.1:p.Arg191_Glu204del
XM_005267709.3:c.571_612del	XP_005267766.1:p.Arg191_Glu204del
XM_005267710.3:c.571_612del	XP_005267767.1:p.Arg191_Glu204del
XM_011536801.1:c.670_711del	XP_011535103.1:p.Arg224_Glu237del
XM_011536802.1:c.571_612del	XP_011535104.1:p.Arg191_Glu204del
XM_011536803.1:c.571_612del	XP_011535105.1:p.Arg191_Glu204del
XM_011536804.1:c.571_612del	XP_011535106.1:p.Arg191_Glu204del
XM_011536805.1:c.571_612del	XP_011535107.1:p.Arg191_Glu204del
XM_011536806.1:c.355_396del	XP_011535108.1:p.Arg119_Glu132del
NM_001354768.1:c.571_612del	NP_001341697.1:p.Arg191_Glu204del
NM_001354769.1:c.571_612del	NP_001341698.1:p.Arg191_Glu204del
NM_001354770.1:c.256_297del	NP_001341699.1:p.Arg86_Glu99del
NM_006177.4:c.571_612del	NP_006168.1:p.Arg191_Glu204del
XM_011536801.2:c.877_918del	XP_011535103.2:p.Arg293_Glu306del
XM_011536804.2:c.571_612del	XP_011535106.1:p.Arg191_Glu204del
XM_011536805.2:c.571_612del	XP_011535107.1:p.Arg191_Glu204del
XM_011536806.2:c.562_603del	XP_011535108.2:p.Arg188_Glu201del
NM_001354768.3:c.571_612del MANE Select	NP_001341697.1:p.Arg191_Glu204del
NM_001354770.2:c.256_297del	NP_001341699.1:p.Arg86_Glu99del
NM_006177.5:c.571_612del	NP_006168.1:p.Arg191_Glu204del