Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40931941_40931942delinsTC , CM000677.2:g.40931941_40931942delinsTC | GRCh38 |
| NC_000015.9:g.41224139_41224140delinsTC , CM000677.1:g.41224139_41224140delinsTC | GRCh37 |
| NC_000015.8:g.39011431_39011432delinsTC | NCBI36 |
| NG_046974.1:g.7609_7610delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.658+175_658+176delinsTC MANE Select | ENSP00000249749.5:n.658+175_658+176delinsTC | |
| ENST00000249749.6:c.658+175_658+176delinsTC | ENSP00000249749.5:n.658+175_658+176delinsTC | |
| ENST00000559440.1:n.887+175_887+176delinsTC | ||
| NM_019074.3:c.658+175_658+176delinsTC | NP_061947.1:n.658+175_658+176delinsTC | |
| NM_019074.4:c.658+175_658+176delinsTC MANE Select | NP_061947.1:n.658+175_658+176delinsTC |