Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977875_149977878delinsCAGA , CM000667.2:g.149977875_149977878delinsCAGA | GRCh38 |
| NC_000005.9:g.149357438_149357441delinsCAGA , CM000667.1:g.149357438_149357441delinsCAGA | GRCh37 |
| NC_000005.8:g.149337631_149337634delinsCAGA | NCBI36 |
| NG_007147.2:g.18993_18996delinsCAGA , LRG_684:g.18993_18996delinsCAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.455_458delinsCAGA | ||
| ENST00000286298.5:c.223_226delinsCAGA MANE Select | ENSP00000286298.4:p.Gln75= | |
| ENST00000286298.4:c.223_226delinsCAGA | ENSP00000286298.4:p.Gln75= | |
| NM_000112.3:c.223_226delinsCAGA , LRG_684t1:c.223_226delinsCAGA | NP_000103.2:p.Gln75= | |
| XM_017009191.2:c.223_226delinsCAGA | XP_016864680.1:p.Gln75= | |
| NM_000112.4:c.223_226delinsCAGA MANE Select | NP_000103.2:p.Gln75= |