Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400713_18400714delinsTC , CM000670.2:g.18400713_18400714delinsTC | GRCh38 |
| NC_000008.10:g.18258223_18258224delinsTC , CM000670.1:g.18258223_18258224delinsTC | GRCh37 |
| NC_000008.9:g.18302503_18302504delinsTC | NCBI36 |
| NG_012246.1:g.14469_14470delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000015.3:c.710_711delinsTC MANE Select | NP_000006.2:p.Phe237= |
| ENST00000286479.4:c.710_711delinsTC MANE Select | ENSP00000286479.3:p.Phe237= |
| NM_000015.2:c.710_711delinsTC | NP_000006.2:p.Phe237= |
| ENST00000286479.3:c.710_711delinsTC | ENSP00000286479.3:p.Phe237= |
| ENST00000520116.1:c.320_321delinsTC | ENSP00000428416.1:p.Phe107= |
| XM_011544358.1:c.710_711delinsTC | XP_011542660.1:p.Phe237= |
| XM_017012938.1:c.710_711delinsTC | XP_016868427.1:p.Phe237= |