Canonical Allele Identifier: CA612957120

Gene: NRL

Linked Data

• dbSNP Id: rs1274984292
• gnomAD v2: 14-24551591-A-AC
• gnomAD v3: 14-24082382-A-AC
• gnomAD v4: 14-24082382-A-AC
• MyVariant Identifiers: chr14:g.24551591_24551592insC (hg19) ; chr14:g.24082382_24082383insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082387dup , CM000676.2:g.24082387dup	GRCh38
NC_000014.8:g.24551596dup , CM000676.1:g.24551596dup	GRCh37
NC_000014.7:g.23621436dup	NCBI36
NG_011697.1:g.7241dup
NG_011697.2:g.37632dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.381+85dup MANE Select	ENSP00000454062.2:n.381+85dup
ENST00000396997.1:c.381+85dup	ENSP00000380193.1:n.381+85dup
ENST00000397002.6:c.381+85dup	ENSP00000380197.2:n.381+85dup
ENST00000561028.5:c.381+85dup	ENSP00000454062.1:n.381+85dup
NM_006177.3:c.381+85dup	NP_006168.1:n.381+85dup
XM_005267708.3:c.381+85dup	XP_005267765.1:n.381+85dup
XM_005267709.3:c.381+85dup	XP_005267766.1:n.381+85dup
XM_005267710.3:c.381+85dup	XP_005267767.1:n.381+85dup
XM_011536801.1:c.480+85dup	XP_011535103.1:n.480+85dup
XM_011536802.1:c.381+85dup	XP_011535104.1:n.381+85dup
XM_011536803.1:c.381+85dup	XP_011535105.1:n.381+85dup
XM_011536804.1:c.381+85dup	XP_011535106.1:n.381+85dup
XM_011536805.1:c.381+85dup	XP_011535107.1:n.381+85dup
XM_011536806.1:c.165+400dup	XP_011535108.1:n.165+400dup
NM_001354768.1:c.381+85dup	NP_001341697.1:n.381+85dup
NM_001354769.1:c.381+85dup	NP_001341698.1:n.381+85dup
NM_001354770.1:c.66+400dup	NP_001341699.1:n.66+400dup
NM_006177.4:c.381+85dup	NP_006168.1:n.381+85dup
XM_011536801.2:c.687+85dup	XP_011535103.2:n.687+85dup
XM_011536804.2:c.381+85dup	XP_011535106.1:n.381+85dup
XM_011536805.2:c.381+85dup	XP_011535107.1:n.381+85dup
XM_011536806.2:c.372+400dup	XP_011535108.2:n.372+400dup
NM_001354768.3:c.381+85dup MANE Select	NP_001341697.1:n.381+85dup
NM_001354770.2:c.66+400dup	NP_001341699.1:n.66+400dup
NM_006177.5:c.381+85dup	NP_006168.1:n.381+85dup