Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.170288447_170288448del , CM000668.2:g.170288447_170288448del | GRCh38 |
| NC_000006.11:g.170597535_170597536del , CM000668.1:g.170597535_170597536del | GRCh37 |
| NC_000006.10:g.170439460_170439461del | NCBI36 |
| NG_027940.1:g.7162_7163del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005618.4:c.461_462del MANE Select | NP_005609.3:p.Thr154SerfsTer26 |
| ENST00000366756.4:c.461_462del MANE Select | ENSP00000355718.3:p.Thr154SerfsTer26 |
| NM_005618.3:c.461_462del | NP_005609.3:p.Thr154SerfsTer26 |
| ENST00000366756.3:c.461_462del | ENSP00000355718.3:p.Thr154SerfsTer26 |
| XM_005266934.2:c.461_462del | XP_005266991.1:p.Thr154SerfsTer26 |
| XM_005266934.4:c.461_462del | XP_005266991.1:p.Thr154SerfsTer26 |
| XM_011535758.1:c.461_462del | XP_011534060.1:p.Thr154SerfsTer26 |