Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675308_215675309delinsTC , CM000663.2:g.215675308_215675309delinsTC | GRCh38 |
| NC_000001.10:g.215848650_215848651delinsTC , CM000663.1:g.215848650_215848651delinsTC | GRCh37 |
| NC_000001.9:g.213915273_213915274delinsTC | NCBI36 |
| NG_009497.1:g.753088_753089delinsGA | |
| NG_009497.2:g.753140_753141delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12602_12603delinsGA MANE Select | ENSP00000305941.3:p.Gly4201= | |
| ENST00000674083.1:c.12602_12603delinsGA | ENSP00000501296.1:p.Gly4201= | |
| ENST00000307340.7:c.12602_12603delinsGA | ENSP00000305941.3:p.Gly4201= | |
| NM_206933.2:c.12602_12603delinsGA | NP_996816.2:p.Gly4201= | |
| NM_206933.3:c.12602_12603delinsGA | NP_996816.2:p.Gly4201= | |
| NM_206933.4:c.12602_12603delinsGA MANE Select | NP_996816.3:p.Gly4201= |