Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566982_137566986del , CM000685.2:g.137566982_137566986del | GRCh38 |
| NC_000023.10:g.136649141_136649145del , CM000685.1:g.136649141_136649145del | GRCh37 |
| NC_000023.9:g.136476807_136476811del | NCBI36 |
| NG_008115.1:g.5796_5800del | |
| NG_008115.2:g.5856_5860del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.291_295del MANE Select | ENSP00000287538.5:p.His97GlnfsTer? | |
| ENST00000287538.9:c.291_295del | ENSP00000287538.5:p.His97GlnfsTer? | |
| ENST00000370606.3:c.291_295del | ENSP00000359638.3:p.His97GlnfsTer? | |
| NM_003413.3:c.291_295del | NP_003404.1:p.His97GlnfsTer? | |
| NM_001330661.1:c.291_295del | NP_001317590.1:p.His97GlnfsTer? | |
| NM_003413.4:c.291_295del MANE Select | NP_003404.1:p.His97GlnfsTer? |