Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215798971_215798972del , CM000663.2:g.215798971_215798972del | GRCh38 |
| NC_000001.10:g.215972313_215972314del , CM000663.1:g.215972313_215972314del | GRCh37 |
| NC_000001.9:g.214038936_214038937del | NCBI36 |
| NG_009497.1:g.629426_629427del | |
| NG_009497.2:g.629478_629479del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.9894_9895del MANE Select | ENSP00000305941.3:p.Gln3298HisfsTer? | |
| ENST00000674083.1:c.9894_9895del | ENSP00000501296.1:p.Gln3298HisfsTer? | |
| ENST00000307340.7:c.9894_9895del | ENSP00000305941.3:p.Gln3298HisfsTer? | |
| NM_206933.2:c.9894_9895del | NP_996816.2:p.Gln3298HisfsTer? | |
| NM_206933.3:c.9894_9895del | NP_996816.2:p.Gln3298HisfsTer? | |
| NM_206933.4:c.9894_9895del MANE Select | NP_996816.3:p.Gln3298HisfsTer? |