Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728351_215728354del , CM000663.2:g.215728351_215728354del | GRCh38 |
| NC_000001.10:g.215901693_215901696del , CM000663.1:g.215901693_215901696del | GRCh37 |
| NC_000001.9:g.213968316_213968319del | NCBI36 |
| NG_009497.1:g.700046_700049del | |
| NG_009497.2:g.700098_700101del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11745_11748del MANE Select | ENSP00000305941.3:p.Phe3916SerfsTer16 | |
| ENST00000674083.1:c.11745_11748del | ENSP00000501296.1:p.Phe3916SerfsTer16 | |
| ENST00000307340.7:c.11745_11748del | ENSP00000305941.3:p.Phe3916SerfsTer16 | |
| NM_206933.2:c.11745_11748del | NP_996816.2:p.Phe3916SerfsTer16 | |
| NM_206933.3:c.11745_11748del | NP_996816.2:p.Phe3916SerfsTer16 | |
| NM_206933.4:c.11745_11748del MANE Select | NP_996816.3:p.Phe3916SerfsTer16 |