Canonical Allele Identifier: CA2123776694
Gene: NRL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24080934_24080936delinsCTG , CM000676.2:g.24080934_24080936delinsCTG GRCh38
NC_000014.8:g.24550143_24550145delinsCTG , CM000676.1:g.24550143_24550145delinsCTG GRCh37
NC_000014.7:g.23619983_23619985delinsCTG NCBI36
NG_011697.1:g.8688_8690delinsCAG
NG_011697.2:g.39079_39081delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000561028.6:c.*300_*302delinsCAG MANE Select ENSP00000454062.2:n.*300_*302delinsCAG
ENST00000396997.1:c.*300_*302delinsCAG ENSP00000380193.1:n.*300_*302delinsCAG
ENST00000397002.6:c.*300_*302delinsCAG ENSP00000380197.2:n.*300_*302delinsCAG
ENST00000561028.5:c.*300_*302delinsCAG ENSP00000454062.1:n.*300_*302delinsCAG
NM_006177.3:c.*300_*302delinsCAG NP_006168.1:n.*300_*302delinsCAG
XM_005267708.3:c.*300_*302delinsCAG XP_005267765.1:n.*300_*302delinsCAG
XM_005267709.3:c.*300_*302delinsCAG XP_005267766.1:n.*300_*302delinsCAG
XM_005267710.3:c.*300_*302delinsCAG XP_005267767.1:n.*300_*302delinsCAG
XM_011536801.1:c.*300_*302delinsCAG XP_011535103.1:n.*300_*302delinsCAG
XM_011536802.1:c.*300_*302delinsCAG XP_011535104.1:n.*300_*302delinsCAG
XM_011536803.1:c.*300_*302delinsCAG XP_011535105.1:n.*300_*302delinsCAG
XM_011536804.1:c.*300_*302delinsCAG XP_011535106.1:n.*300_*302delinsCAG
XM_011536805.1:c.*300_*302delinsCAG XP_011535107.1:n.*300_*302delinsCAG
XM_011536806.1:c.*300_*302delinsCAG XP_011535108.1:n.*300_*302delinsCAG
NM_001354768.1:c.*300_*302delinsCAG NP_001341697.1:n.*300_*302delinsCAG
NM_001354769.1:c.*300_*302delinsCAG NP_001341698.1:n.*300_*302delinsCAG
NM_001354770.1:c.*300_*302delinsCAG NP_001341699.1:n.*300_*302delinsCAG
NM_006177.4:c.*300_*302delinsCAG NP_006168.1:n.*300_*302delinsCAG
XM_011536801.2:c.*300_*302delinsCAG XP_011535103.2:n.*300_*302delinsCAG
XM_011536804.2:c.*300_*302delinsCAG XP_011535106.1:n.*300_*302delinsCAG
XM_011536805.2:c.*300_*302delinsCAG XP_011535107.1:n.*300_*302delinsCAG
XM_011536806.2:c.*300_*302delinsCAG XP_011535108.2:n.*300_*302delinsCAG
NM_001354768.3:c.*300_*302delinsCAG MANE Select NP_001341697.1:n.*300_*302delinsCAG
NM_001354770.2:c.*300_*302delinsCAG NP_001341699.1:n.*300_*302delinsCAG
NM_006177.5:c.*300_*302delinsCAG NP_006168.1:n.*300_*302delinsCAG