Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071901_111071908delinsTTGCCTTA , CM000667.2:g.111071901_111071908delinsTTGCCTTA | GRCh38 |
| NC_000005.9:g.110407599_110407606delinsTTGCCTTA , CM000667.1:g.110407599_110407606delinsTTGCCTTA | GRCh37 |
| NC_000005.8:g.110435498_110435505delinsTTGCCTTA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.11_18delinsTTGCCTTA MANE Select | ENSP00000339804.3:p.Phe4= | |
| ENST00000344895.3:c.11_18delinsTTGCCTTA | ENSP00000339804.3:p.Phe4= | |
| ENST00000420978.6:c.35-24_35-17delinsTTGCCTTA | ENSP00000399099.2:n.35-24_35-17delinsTTGCCTTA | |
| NM_033035.4:c.11_18delinsTTGCCTTA | NP_149024.1:p.Phe4= | |
| NR_045089.1:n.1439-24_1439-17delinsTTGCCTTA | ||
| NM_033035.5:c.11_18delinsTTGCCTTA MANE Select | NP_149024.1:p.Phe4= | |
| NR_045089.2:n.1457-24_1457-17delinsTTGCCTTA |