Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728370_215728372delinsATG , CM000663.2:g.215728370_215728372delinsATG | GRCh38 |
| NC_000001.10:g.215901712_215901714delinsATG , CM000663.1:g.215901712_215901714delinsATG | GRCh37 |
| NC_000001.9:g.213968335_213968337delinsATG | NCBI36 |
| NG_009497.1:g.700025_700027delinsCAT | |
| NG_009497.2:g.700077_700079delinsCAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11724_11726delinsCAT MANE Select | ENSP00000305941.3:p.Gly3908= | |
| ENST00000674083.1:c.11724_11726delinsCAT | ENSP00000501296.1:p.Gly3908= | |
| ENST00000307340.7:c.11724_11726delinsCAT | ENSP00000305941.3:p.Gly3908= | |
| NM_206933.2:c.11724_11726delinsCAT | NP_996816.2:p.Gly3908= | |
| NM_206933.3:c.11724_11726delinsCAT | NP_996816.2:p.Gly3908= | |
| NM_206933.4:c.11724_11726delinsCAT MANE Select | NP_996816.3:p.Gly3908= |