Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869252_240869253del , CM000664.2:g.240869252_240869253del | GRCh38 |
| NC_000002.11:g.241808669_241808670del , CM000664.1:g.241808669_241808670del | GRCh37 |
| NC_000002.10:g.241457342_241457343del | NCBI36 |
| NG_008005.1:g.5508_5509del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.248_249del MANE Select | ENSP00000302620.3:p.His83LeufsTer? | |
| ENST00000307503.3:c.248_249del | ENSP00000302620.3:p.His83LeufsTer? | |
| ENST00000472436.1:n.268_269del | ||
| NM_000030.2:c.248_249del | NP_000021.1:p.His83LeufsTer? | |
| XR_924060.1:n.405+982_405+983del | ||
| NM_000030.3:c.248_249del MANE Select | NP_000021.1:p.His83LeufsTer? |