Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647758_34649651del , CM000671.2:g.34647758_34649651del | GRCh38 |
| NC_000009.11:g.34647755_34649648del , CM000671.1:g.34647755_34649648del | GRCh37 |
| NC_000009.10:g.34637755_34639648del | NCBI36 |
| NG_028966.1:g.574_2467del | |
| NG_009029.2:g.6170_8063del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.329-74_*647+87del | ||
| ENST00000378842.8:c.377+53_1059+87del | ||
| ENST00000378842.7:c.377+53_1059+87del | ||
| ENST00000450095.6:c.51-74_732+87del | ||
| ENST00000489643.6:n.283-357_1554del | ||
| ENST00000554550.5:c.253-74_*679+87del | ||
| ENST00000554638.5:n.776_1531+87del | ||
| ENST00000555020.5:n.460_1935del | ||
| ENST00000556278.1:c.253-357_432+1195del | ||
| ENST00000557706.5:n.866_1634+87del | ||
| NM_000155.3:c.377+53_1059+87del | ||
| NM_001258332.1:c.51-74_732+87del | ||
| NM_000155.4:c.377+53_1059+87del | ||
| NM_001258332.2:c.51-74_732+87del |