Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60644922_60644923insCATT , CM000676.2:g.60644922_60644923insCATT | GRCh38 |
| NC_000014.8:g.61111640_61111641insCATT , CM000676.1:g.61111640_61111641insCATT | GRCh37 |
| NC_000014.7:g.60181393_60181394insCATT | NCBI36 |
| NG_008231.1:g.9515_9516insAATG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645694.3:c.*1360_*1361insAATG MANE Select | ENSP00000494686.1:n.*1360_*1361insAATG | |
| ENST00000247182.6:c.*1360_*1361insAATG | ENSP00000247182.5:n.*1360_*1361insAATG | |
| ENST00000554986.2:c.*1360_*1361insAATG | ENSP00000452700.2:n.*1360_*1361insAATG | |
| NM_005982.3:c.*1360_*1361insAATG | NP_005973.1:n.*1360_*1361insAATG | |
| XM_017021602.2:c.*1634_*1635insAATG | XP_016877091.1:n.*1634_*1635insAATG | |
| NM_005982.4:c.*1360_*1361insAATG MANE Select | NP_005973.1:n.*1360_*1361insAATG |