Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869474_240869475del , CM000664.2:g.240869474_240869475del | GRCh38 |
| NC_000002.11:g.241808891_241808892del , CM000664.1:g.241808891_241808892del | GRCh37 |
| NC_000002.10:g.241457564_241457565del | NCBI36 |
| NG_008005.1:g.5730_5731del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.358+112_358+113del MANE Select | ENSP00000302620.3:n.358+112_358+113del | |
| ENST00000307503.3:c.358+112_358+113del | ENSP00000302620.3:n.358+112_358+113del | |
| ENST00000472436.1:n.378+112_378+113del | ||
| NM_000030.2:c.358+112_358+113del | NP_000021.1:n.358+112_358+113del | |
| XR_924060.1:n.405+758_405+759del | ||
| NM_000030.3:c.358+112_358+113del MANE Select | NP_000021.1:n.358+112_358+113del |