Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794677_77794678insCATTTCATGG , CM000671.2:g.77794677_77794678insCATTTCATGG | GRCh38 |
| NC_000009.11:g.80409593_80409594insCATTTCATGG , CM000671.1:g.80409593_80409594insCATTTCATGG | GRCh37 |
| NC_000009.10:g.79599413_79599414insCATTTCATGG | NCBI36 |
| NG_027904.2:g.241627_241628insCATGAAATGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.606-85_606-84insCATGAAATGC MANE Select | ENSP00000286548.4:n.606-85_606-84insCATGAAATGC | |
| ENST00000286548.8:c.606-85_606-84insCATGAAATGC | ENSP00000286548.4:n.606-85_606-84insCATGAAATGC | |
| NM_002072.4:c.606-85_606-84insCATGAAATGC | NP_002063.2:n.606-85_606-84insCATGAAATGC | |
| XM_017014628.2:c.432-85_432-84insCATGAAATGC | XP_016870117.1:n.432-85_432-84insCATGAAATGC | |
| NM_002072.5:c.606-85_606-84insCATGAAATGC MANE Select | NP_002063.2:n.606-85_606-84insCATGAAATGC |