Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47733735_47733736insTC , CM000679.2:g.47733735_47733736insTC | GRCh38 |
| NC_000017.10:g.45811101_45811102insTC , CM000679.1:g.45811101_45811102insTC | GRCh37 |
| NC_000017.9:g.43166100_43166101insTC | NCBI36 |
| NG_012166.1:g.5492_5493insTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.281_282insTC MANE Select | ENSP00000177694.1:p.Pro95ArgfsTer? | |
| ENST00000177694.1:c.281_282insTC | ENSP00000177694.1:p.Pro95ArgfsTer? | |
| ENST00000581328.1:n.311_312insTC | ||
| NM_013351.1:c.281_282insTC | NP_037483.1:p.Pro95ArgfsTer? | |
| XM_011524698.1:c.281_282insTC | XP_011523000.1:p.Pro95ArgfsTer? | |
| NM_013351.2:c.281_282insTC MANE Select | NP_037483.1:p.Pro95ArgfsTer? |