Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48750401_48750402del , CM000681.2:g.48750401_48750402del | GRCh38 |
| NC_000019.9:g.49253658_49253659del , CM000681.1:g.49253658_49253659del | GRCh37 |
| NC_000019.8:g.53945470_53945471del | NCBI36 |
| NG_007510.1:g.9990_9991del | |
| NG_007510.2:g.9990_9991del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001384359.1:c.881_882del MANE Select | NP_001371288.1:p.Phe294CysfsTer? |
| ENST00000645652.2:c.881_882del MANE Select | ENSP00000494643.1:p.Phe294CysfsTer? |
| NM_000148.3:c.881_882del | NP_000139.1:p.Phe294CysfsTer? |
| NM_000148.4:c.881_882del | NP_000139.1:p.Phe294CysfsTer? |
| NM_001329877.1:c.881_882del | NP_001316806.1:p.Phe294CysfsTer? |
| ENST00000310160.7:c.881_882del | ENSP00000312021.3:p.Phe294CysfsTer? |
| XM_006723127.1:c.1250_1251del | XP_006723190.1:p.Phe417CysfsTer? |