Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981656_149981658delinsCCA , CM000667.2:g.149981656_149981658delinsCCA | GRCh38 |
| NC_000005.9:g.149361219_149361221delinsCCA , CM000667.1:g.149361219_149361221delinsCCA | GRCh37 |
| NC_000005.8:g.149341412_149341414delinsCCA | NCBI36 |
| NG_007147.2:g.22774_22776delinsCCA , LRG_684:g.22774_22776delinsCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.2063_2065delinsCCA MANE Select | ENSP00000286298.4:p.Pro688= | |
| ENST00000286298.4:c.2063_2065delinsCCA | ENSP00000286298.4:p.Pro688= | |
| ENST00000503336.1:c.372+3305_372+3307delinsCCA | ENSP00000426053.1:n.372+3305_372+3307delinsCCA | |
| NM_000112.3:c.2063_2065delinsCCA , LRG_684t1:c.2063_2065delinsCCA | NP_000103.2:p.Pro688= | |
| XM_017009191.2:c.2063_2065delinsCCA | XP_016864680.1:p.Pro688= | |
| NM_000112.4:c.2063_2065delinsCCA MANE Select | NP_000103.2:p.Pro688= |