Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977796_149977797delinsCA , CM000667.2:g.149977796_149977797delinsCA | GRCh38 |
| NC_000005.9:g.149357359_149357360delinsCA , CM000667.1:g.149357359_149357360delinsCA | GRCh37 |
| NC_000005.8:g.149337552_149337553delinsCA | NCBI36 |
| NG_007147.2:g.18914_18915delinsCA , LRG_684:g.18914_18915delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.376_377delinsCA | ||
| ENST00000286298.5:c.144_145delinsCA MANE Select | ENSP00000286298.4:p.Cys48= | |
| ENST00000286298.4:c.144_145delinsCA | ENSP00000286298.4:p.Cys48= | |
| NM_000112.3:c.144_145delinsCA , LRG_684t1:c.144_145delinsCA | NP_000103.2:p.Cys48= | |
| XM_017009191.2:c.144_145delinsCA | XP_016864680.1:p.Cys48= | |
| NM_000112.4:c.144_145delinsCA MANE Select | NP_000103.2:p.Cys48= |