Canonical Allele Identifier: CA1624892611
Gene: NFKBIE HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44258367_44258379delinsCCTGGGTTACCCT , CM000668.2:g.44258367_44258379delinsCCTGGGTTACCCT GRCh38
NC_000006.11:g.44226104_44226116delinsCCTGGGTTACCCT , CM000668.1:g.44226104_44226116delinsCCTGGGTTACCCT GRCh37
NC_000006.10:g.44334082_44334094delinsCCTGGGTTACCCT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000619360.6:c.*840_*852delinsAGGGTAACCCAGG (NFKBIE) MANE Select ENSP00000480216.1:n.*840_*852delinsAGGGTAACCCAGG
ENST00000275015.9:c.*840_*852delinsAGGGTAACCCAGG (NFKBIE) ENSP00000275015.3:n.*840_*852delinsAGGGTAACCCAGG
ENST00000619360.4:c.*840_*852delinsAGGGTAACCCAGG (NFKBIE) ENSP00000480216.1:n.*840_*852delinsAGGGTAACCCAGG
NM_004556.2:c.*840_*852delinsAGGGTAACCCAGG (NFKBIE) NP_004547.2:n.*840_*852delinsAGGGTAACCCAGG
NM_004556.3:c.*840_*852delinsAGGGTAACCCAGG (NFKBIE) MANE Select NP_004547.3:n.*840_*852delinsAGGGTAACCCAGG
NM_001318876.2:c.946-183523_946-183511delinsCCTGGGTTACCCT (POLR1C) NP_001305805.1:n.946-183523_946-183511delinsCCTGGGTTACCCT