Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191860_23191861insAAAAAAAAAAT , CM000670.2:g.23191860_23191861insAAAAAAAAAAT | GRCh38 |
| NC_000008.10:g.23049373_23049374insAAAAAAAAAAT , CM000670.1:g.23049373_23049374insAAAAAAAAAAT | GRCh37 |
| NC_000008.9:g.23105318_23105319insAAAAAAAAAAT | NCBI36 |
| NG_032107.1:g.38308_38309insTTTTTTTTTTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1241_1242insTTTTTTTTTTA MANE Select | ENSP00000221132.3:p.Lys414AsnfsTer? | |
| ENST00000221132.7:c.1241_1242insTTTTTTTTTTA | ENSP00000221132.3:p.Lys414AsnfsTer? | |
| ENST00000519862.1:n.296_297insTTTTTTTTTTA | ||
| ENST00000613472.1:c.767_768insTTTTTTTTTTA | ENSP00000480778.1:p.Lys256AsnfsTer? | |
| NM_003844.3:c.1241_1242insTTTTTTTTTTA | NP_003835.3:p.Lys414AsnfsTer? | |
| NM_003844.4:c.1241_1242insTTTTTTTTTTA MANE Select | NP_003835.3:p.Lys414AsnfsTer? |