Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12663697_12663703del , CM000681.2:g.12663697_12663703del | GRCh38 |
| NC_000019.9:g.12774511_12774517del , CM000681.1:g.12774511_12774517del | GRCh37 |
| NC_000019.8:g.12635511_12635517del | NCBI36 |
| NG_008318.1:g.8077_8083del | |
| NG_015814.1:g.1894_1900del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.763+2_763+8del | ||
| ENST00000221363.8:c.763+2_763+8del | ||
| ENST00000456935.6:c.763+2_763+8del | ||
| ENST00000466794.5:n.745+2_745+8del | ||
| ENST00000486847.2:c.466+2_466+8del | ||
| NM_000528.3:c.763+2_763+8del | ||
| NM_001173498.1:c.763+2_763+8del | ||
| XM_005259913.1:c.763+2_763+8del | ||
| XM_005259913.2:c.763+2_763+8del | ||
| XM_024451518.1:c.-256+2_-256+8del | ||
| NM_000528.4:c.763+2_763+8del | ||
| NM_001173498.2:c.763+2_763+8del |