Canonical Allele Identifier: CA2624298556

Gene: NRL

Linked Data

• gnomAD v4: 14-24081454-T-TGCGGCGCCTCTGCTTCAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081457_24081476dup , CM000676.2:g.24081457_24081476dup	GRCh38
NC_000014.8:g.24550666_24550685dup , CM000676.1:g.24550666_24550685dup	GRCh37
NC_000014.7:g.23620506_23620525dup	NCBI36
NG_011697.1:g.8150_8169dup
NG_011697.2:g.38541_38560dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.476_495dup MANE Select	ENSP00000454062.2:p.Thr166GlyfsTer2
ENST00000396995.1:c.59_78dup	ENSP00000380191.1:p.Thr27GlyfsTer2
ENST00000396997.1:c.476_495dup	ENSP00000380193.1:p.Thr166GlyfsTer2
ENST00000397002.6:c.476_495dup	ENSP00000380197.2:p.Thr166GlyfsTer2
ENST00000560550.1:c.59_78dup	ENSP00000452966.1:p.Thr27GlyfsTer2
ENST00000561028.5:c.476_495dup	ENSP00000454062.1:p.Thr166GlyfsTer2
NM_006177.3:c.476_495dup	NP_006168.1:p.Thr166GlyfsTer2
XM_005267708.3:c.476_495dup	XP_005267765.1:p.Thr166GlyfsTer2
XM_005267709.3:c.476_495dup	XP_005267766.1:p.Thr166GlyfsTer2
XM_005267710.3:c.476_495dup	XP_005267767.1:p.Thr166GlyfsTer2
XM_011536801.1:c.575_594dup	XP_011535103.1:p.Thr199GlyfsTer2
XM_011536802.1:c.476_495dup	XP_011535104.1:p.Thr166GlyfsTer2
XM_011536803.1:c.476_495dup	XP_011535105.1:p.Thr166GlyfsTer2
XM_011536804.1:c.476_495dup	XP_011535106.1:p.Thr166GlyfsTer2
XM_011536805.1:c.476_495dup	XP_011535107.1:p.Thr166GlyfsTer2
XM_011536806.1:c.260_279dup	XP_011535108.1:p.Thr94GlyfsTer2
NM_001354768.1:c.476_495dup	NP_001341697.1:p.Thr166GlyfsTer2
NM_001354769.1:c.476_495dup	NP_001341698.1:p.Thr166GlyfsTer2
NM_001354770.1:c.161_180dup	NP_001341699.1:p.Thr61GlyfsTer2
NM_006177.4:c.476_495dup	NP_006168.1:p.Thr166GlyfsTer2
XM_011536801.2:c.782_801dup	XP_011535103.2:p.Thr268GlyfsTer2
XM_011536804.2:c.476_495dup	XP_011535106.1:p.Thr166GlyfsTer2
XM_011536805.2:c.476_495dup	XP_011535107.1:p.Thr166GlyfsTer2
XM_011536806.2:c.467_486dup	XP_011535108.2:p.Thr163GlyfsTer2
NM_001354768.3:c.476_495dup MANE Select	NP_001341697.1:p.Thr166GlyfsTer2
NM_001354770.2:c.161_180dup	NP_001341699.1:p.Thr61GlyfsTer2
NM_006177.5:c.476_495dup	NP_006168.1:p.Thr166GlyfsTer2