Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869294_240869296del , CM000664.2:g.240869294_240869296del | GRCh38 |
| NC_000002.11:g.241808711_241808713del , CM000664.1:g.241808711_241808713del | GRCh37 |
| NC_000002.10:g.241457384_241457386del | NCBI36 |
| NG_008005.1:g.5550_5552del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.290_292del MANE Select | ENSP00000302620.3:p.Gly97del | |
| ENST00000307503.3:c.290_292del | ENSP00000302620.3:p.Gly97del | |
| ENST00000472436.1:n.310_312del | ||
| NM_000030.2:c.290_292del | NP_000021.1:p.Gly97del | |
| XR_924060.1:n.405+938_405+940del | ||
| NM_000030.3:c.290_292del MANE Select | NP_000021.1:p.Gly97del |