Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228080_66228081delinsTC , CM000679.2:g.66228080_66228081delinsTC | GRCh38 |
| NC_000017.10:g.64224198_64224199delinsTC , CM000679.1:g.64224198_64224199delinsTC | GRCh37 |
| NC_000017.9:g.61654660_61654661delinsTC | NCBI36 |
| NG_012045.1:g.6358_6359delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.180_181delinsGA MANE Select | ENSP00000205948.6:p.Gly60= | |
| ENST00000205948.10:c.180_181delinsGA | ENSP00000205948.6:p.Gly60= | |
| ENST00000577982.1:c.180_181delinsGA | ENSP00000464301.1:p.Gly60= | |
| ENST00000581797.5:c.-1_1delinsGA | ||
| NM_000042.2:c.180_181delinsGA | NP_000033.2:p.Gly60= | |
| NM_000042.3:c.180_181delinsGA MANE Select | NP_000033.2:p.Gly60= |