Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506428_122506429delinsTA , CM000672.2:g.122506428_122506429delinsTA | GRCh38 |
| NC_000010.10:g.124265944_124265945delinsTA , CM000672.1:g.124265944_124265945delinsTA | GRCh37 |
| NC_000010.9:g.124255934_124255935delinsTA | NCBI36 |
| NG_011554.1:g.49904_49905delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.778-263_778-262delinsTA MANE Select | ENSP00000357980.3:n.778-263_778-262delinsTA | |
| ENST00000648167.1:c.460-263_460-262delinsTA | ENSP00000498033.1:n.460-263_460-262delinsTA | |
| ENST00000368984.7:c.778-263_778-262delinsTA | ENSP00000357980.3:n.778-263_778-262delinsTA | |
| NM_002775.4:c.778-263_778-262delinsTA | NP_002766.1:n.778-263_778-262delinsTA | |
| NM_002775.5:c.778-263_778-262delinsTA MANE Select | NP_002766.1:n.778-263_778-262delinsTA |