Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102865820_102866770del , CM000674.2:g.102865820_102866770del | GRCh38 |
| NC_000012.11:g.103259598_103260548del , CM000674.1:g.103259598_103260548del | GRCh37 |
| NC_000012.10:g.101783728_101784678del | NCBI36 |
| NG_008690.1:g.55838_56788del | |
| NG_008690.2:g.96646_97596del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.442-102_509+781del | ||
| ENST00000307000.7:c.427-102_494+781del | ||
| ENST00000549111.5:n.538-102_605+781del | ||
| ENST00000551988.5:n.530+10697_531-10483del | ||
| ENST00000553106.5:c.442-102_509+781del | ||
| NM_000277.1:c.442-102_509+781del | ||
| XM_011538422.1:c.442-102_509+781del | ||
| NM_000277.2:c.442-102_509+781del | ||
| NM_001354304.1:c.442-102_509+781del | ||
| XM_017019370.2:c.442-102_509+781del | ||
| NM_000277.3:c.442-102_509+781del | ||
| NM_001354304.2:c.442-102_509+781del |