Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445654_15445659delinsGGCATC , CM000663.2:g.15445654_15445659delinsGGCATC | GRCh38 |
| NC_000001.10:g.15772149_15772154delinsGGCATC , CM000663.1:g.15772149_15772154delinsGGCATC | GRCh37 |
| NC_000001.9:g.15644736_15644741delinsGGCATC | NCBI36 |
| NG_009253.1:g.12212_12217delinsGGCATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.697_702delinsGGCATC MANE Select | ENSP00000365116.4:p.Gly233= | |
| ENST00000375943.6:c.*151_*156delinsGGCATC | ENSP00000365110.2:n.*151_*156delinsGGCATC | |
| ENST00000375949.4:c.697_702delinsGGCATC | ENSP00000365116.4:p.Gly233= | |
| ENST00000483406.1:n.461_466delinsGGCATC | ||
| NM_007272.2:c.697_702delinsGGCATC | NP_009203.2:p.Gly233= | |
| XM_011540550.1:c.551_556delinsGGCATC | XP_011538852.1:p.Trp184= | |
| NM_007272.3:c.697_702delinsGGCATC MANE Select | NP_009203.2:p.Gly233= |