Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215766782_215766784del , CM000663.2:g.215766782_215766784del | GRCh38 |
| NC_000001.10:g.215940124_215940126del , CM000663.1:g.215940124_215940126del | GRCh37 |
| NC_000001.9:g.214006747_214006749del | NCBI36 |
| NG_009497.1:g.661613_661615del | |
| NG_009497.2:g.661665_661667del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10944_10946del MANE Select | ENSP00000305941.3:p.Gln3649del | |
| ENST00000674083.1:c.10944_10946del | ENSP00000501296.1:p.Gln3649del | |
| ENST00000307340.7:c.10944_10946del | ENSP00000305941.3:p.Gln3649del | |
| NM_206933.2:c.10944_10946del | NP_996816.2:p.Gln3649del | |
| NM_206933.3:c.10944_10946del | NP_996816.2:p.Gln3649del | |
| NM_206933.4:c.10944_10946del MANE Select | NP_996816.3:p.Gln3649del |