Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308840_30308855del , CM000685.2:g.30308840_30308855del | GRCh38 |
| NC_000023.10:g.30326957_30326972del , CM000685.1:g.30326957_30326972del | GRCh37 |
| NC_000023.9:g.30236878_30236893del | NCBI36 |
| NG_009814.1:g.5525_5540del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.510_525del MANE Select | ENSP00000368253.4:p.Trp171ThrfsTer? | |
| ENST00000378970.4:c.510_525del | ENSP00000368253.4:p.Trp171ThrfsTer? | |
| NM_000475.4:c.510_525del | NP_000466.2:p.Trp171ThrfsTer? | |
| NM_000475.5:c.510_525del MANE Select | NP_000466.2:p.Trp171ThrfsTer? |