Linked Data
dbSNP Id:
rs1781754738
gnomAD v3:
6-44258367-CCTGGGTTACCCT-C
gnomAD v4:
6-44258367-CCTGGGTTACCCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44258368_44258379del , CM000668.2:g.44258368_44258379del | GRCh38 |
| NC_000006.11:g.44226105_44226116del , CM000668.1:g.44226105_44226116del | GRCh37 |
| NC_000006.10:g.44334083_44334094del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619360.6:c.*840_*851del (NFKBIE) MANE Select | ENSP00000480216.1:n.*840_*851del | |
| ENST00000275015.9:c.*840_*851del (NFKBIE) | ENSP00000275015.3:n.*840_*851del | |
| ENST00000619360.4:c.*840_*851del (NFKBIE) | ENSP00000480216.1:n.*840_*851del | |
| NM_004556.2:c.*840_*851del (NFKBIE) | NP_004547.2:n.*840_*851del | |
| NM_004556.3:c.*840_*851del (NFKBIE) MANE Select | NP_004547.3:n.*840_*851del | |
| NM_001318876.2:c.946-183522_946-183511del (POLR1C) | NP_001305805.1:n.946-183522_946-183511del |