Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526503_7526504del , CM000681.2:g.7526503_7526504del | GRCh38 |
| NC_000019.9:g.7591389_7591390del , CM000681.1:g.7591389_7591390del | GRCh37 |
| NC_000019.8:g.7497389_7497390del | NCBI36 |
| NG_015806.1:g.8894_8895del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.302_303del MANE Select | ENSP00000264079.5:p.Phe101SerfsTer14 | |
| ENST00000264079.10:c.302_303del | ENSP00000264079.5:p.Phe101SerfsTer14 | |
| ENST00000394321.9:n.382_383del | ||
| ENST00000596008.1:n.264_265del | ||
| ENST00000598406.1:n.123_124del | ||
| ENST00000601003.1:c.302_303del | ENSP00000469074.1:p.Phe101SerfsTer14 | |
| NM_020533.2:c.302_303del | NP_065394.1:p.Phe101SerfsTer14 | |
| NM_020533.3:c.302_303del MANE Select | NP_065394.1:p.Phe101SerfsTer14 |