Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246040del , CM000674.2:g.65246040del | GRCh38 |
| NC_000012.11:g.65639820del , CM000674.1:g.65639820del | GRCh37 |
| NC_000012.10:g.63926087del | NCBI36 |
| NG_016210.1:g.81470del | |
| NG_016210.2:g.81470del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2572+101del MANE Select | ENSP00000308369.2:n.2572+101del | |
| ENST00000308330.2:c.2572+101del | ENSP00000308369.2:n.2572+101del | |
| ENST00000539442.1:n.554+101del | ||
| ENST00000544506.1:n.292+101del | ||
| ENST00000545026.1:n.390+101del | ||
| NM_001167614.1:c.2569+101del | NP_001161086.1:n.2569+101del | |
| NM_014319.4:c.2572+101del | NP_055134.2:n.2572+101del | |
| NM_014319.5:c.2572+101del MANE Select | NP_055134.2:n.2572+101del | |
| NM_001167614.2:c.2569+101del | NP_001161086.1:n.2569+101del |