Canonical Allele Identifier: CA7122905
Gene: NRL HGNC NCBI

Linked Data

ClinVar Variation Id: 14043
ClinVar RCV Id: RCV000015087 RCV001071187
dbSNP Id: rs763191889
ExAC: 14:24551834 A / AG
gnomAD v2: 14-24551834-A-AG
gnomAD v3: 14-24082625-A-AG
gnomAD v4: 14-24082625-A-AG
MyVariant Identifiers: chr14:g.24551835dupG (hg19) chr14:g.24551834_24551835insG (hg19) chr14:g.24082626dupG (hg38) chr14:g.24082625_24082626insG (hg38)
PubMed: PMID:15591106 PMID:17335001
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24082626dup , CM000676.2:g.24082626dup GRCh38
NC_000014.8:g.24551835dup , CM000676.1:g.24551835dup GRCh37
NC_000014.7:g.23621675dup NCBI36
NG_011697.1:g.6998dup
NG_011697.2:g.37389dup

Transcript Alleles

HGVS Amino-acid change
ENST00000561028.6:c.223dup MANE Select ENSP00000454062.2:p.Leu75ProfsTer19
ENST00000396997.1:c.223dup ENSP00000380193.1:p.Leu75ProfsTer19
ENST00000397002.6:c.223dup ENSP00000380197.2:p.Leu75ProfsTer19
ENST00000561028.5:c.223dup ENSP00000454062.1:p.Leu75ProfsTer19
NM_006177.3:c.223dup NP_006168.1:p.Leu75ProfsTer19
XM_005267708.3:c.223dup XP_005267765.1:p.Leu75ProfsTer19
XM_005267709.3:c.223dup XP_005267766.1:p.Leu75ProfsTer19
XM_005267710.3:c.223dup XP_005267767.1:p.Leu75ProfsTer19
XM_011536801.1:c.322dup XP_011535103.1:p.Leu108ProfsTer19
XM_011536802.1:c.223dup XP_011535104.1:p.Leu75ProfsTer19
XM_011536803.1:c.223dup XP_011535105.1:p.Leu75ProfsTer19
XM_011536804.1:c.223dup XP_011535106.1:p.Leu75ProfsTer19
XM_011536805.1:c.223dup XP_011535107.1:p.Leu75ProfsTer19
XM_011536806.1:c.165+157dup XP_011535108.1:n.165+157dup
NM_001354768.1:c.223dup NP_001341697.1:p.Leu75ProfsTer19
NM_001354769.1:c.223dup NP_001341698.1:p.Leu75ProfsTer19
NM_001354770.1:c.66+157dup NP_001341699.1:n.66+157dup
NM_006177.4:c.223dup NP_006168.1:p.Leu75ProfsTer19
XM_011536801.2:c.529dup XP_011535103.2:p.Leu177ProfsTer19
XM_011536804.2:c.223dup XP_011535106.1:p.Leu75ProfsTer19
XM_011536805.2:c.223dup XP_011535107.1:p.Leu75ProfsTer19
XM_011536806.2:c.372+157dup XP_011535108.2:n.372+157dup
NM_001354768.3:c.223dup MANE Select NP_001341697.1:p.Leu75ProfsTer19
NM_001354770.2:c.66+157dup NP_001341699.1:n.66+157dup
NM_006177.5:c.223dup NP_006168.1:p.Leu75ProfsTer19
Search 100 bp 5'
Search 100 bp 3'