Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814149_218814154delinsAAGCT , CM000664.2:g.218814149_218814154delinsAAGCT | GRCh38 |
| NC_000002.11:g.219678872_219678877delinsAAGCT , CM000664.1:g.219678872_219678877delinsAAGCT | GRCh37 |
| NC_000002.10:g.219387116_219387121delinsAAGCT | NCBI36 |
| NG_007959.1:g.37401_37406delinsAAGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1146_1151delinsAAGCT MANE Select | ENSP00000258415.4:p.His382GlnfsTer26 | |
| ENST00000258415.8:c.1146_1151delinsAAGCT | ENSP00000258415.4:p.His382GlnfsTer26 | |
| ENST00000494263.5:n.1580_1585delinsAAGCT | ||
| NM_000784.3:c.1146_1151delinsAAGCT | NP_000775.1:p.His382GlnfsTer26 | |
| XM_017003488.2:c.726_731delinsAAGCT | XP_016858977.1:p.His242GlnfsTer26 | |
| NM_000784.4:c.1146_1151delinsAAGCT MANE Select | NP_000775.1:p.His382GlnfsTer26 |