Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102877461_102877462del , CM000674.2:g.102877461_102877462del | GRCh38 |
| NC_000012.11:g.103271239_103271240del , CM000674.1:g.103271239_103271240del | GRCh37 |
| NC_000012.10:g.101795369_101795370del | NCBI36 |
| NG_008690.1:g.45143_45144del | |
| NG_008690.2:g.85951_85952del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.441+2_441+3del | ||
| ENST00000307000.7:c.426+2_426+3del | ||
| ENST00000549111.5:n.537+2_537+3del | ||
| ENST00000550978.6:c.427_428del | ||
| ENST00000551988.5:n.530+2_530+3del | ||
| ENST00000553106.5:c.441+2_441+3del | ||
| NM_000277.1:c.441+2_441+3del | ||
| XM_011538422.1:c.441+2_441+3del | ||
| NM_000277.2:c.441+2_441+3del | ||
| NM_001354304.1:c.441+2_441+3del | ||
| XM_017019370.2:c.441+2_441+3del | ||
| NM_000277.3:c.441+2_441+3del | ||
| NM_001354304.2:c.441+2_441+3del |