Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102866372_102868042del , CM000674.2:g.102866372_102868042del | GRCh38 |
| NC_000012.11:g.103260150_103261820del , CM000674.1:g.103260150_103261820del | GRCh37 |
| NC_000012.10:g.101784280_101785950del | NCBI36 |
| NG_008690.1:g.54563_56233del | |
| NG_008690.2:g.95371_97041del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.442-1377_509+226del | ||
| ENST00000307000.7:c.427-1377_494+226del | ||
| ENST00000549111.5:n.538-1377_605+226del | ||
| ENST00000551988.5:n.530+9422_531-11038del | ||
| ENST00000553106.5:c.442-1377_509+226del | ||
| NM_000277.1:c.442-1377_509+226del | ||
| XM_011538422.1:c.442-1377_509+226del | ||
| NM_000277.2:c.442-1377_509+226del | ||
| NM_001354304.1:c.442-1377_509+226del | ||
| XM_017019370.2:c.442-1377_509+226del | ||
| NM_000277.3:c.442-1377_509+226del | ||
| NM_001354304.2:c.442-1377_509+226del |