Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215779930_215779937delinsCGTTTGAT , CM000663.2:g.215779930_215779937delinsCGTTTGAT | GRCh38 |
| NC_000001.10:g.215953272_215953279delinsCGTTTGAT , CM000663.1:g.215953272_215953279delinsCGTTTGAT | GRCh37 |
| NC_000001.9:g.214019895_214019902delinsCGTTTGAT | NCBI36 |
| NG_009497.1:g.648460_648467delinsATCAAACG | |
| NG_009497.2:g.648512_648519delinsATCAAACG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10845_10852delinsATCAAACG MANE Select | ENSP00000305941.3:p.Lys3615= | |
| ENST00000674083.1:c.10845_10852delinsATCAAACG | ENSP00000501296.1:p.Lys3615= | |
| ENST00000307340.7:c.10845_10852delinsATCAAACG | ENSP00000305941.3:p.Lys3615= | |
| NM_206933.2:c.10845_10852delinsATCAAACG | NP_996816.2:p.Lys3615= | |
| NM_206933.3:c.10845_10852delinsATCAAACG | NP_996816.2:p.Lys3615= | |
| NM_206933.4:c.10845_10852delinsATCAAACG MANE Select | NP_996816.3:p.Lys3615= |