Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154903948_154903949insATCATATACCAATGTATGTAGCTGCGGCAAAGGTCTTACGTTATTGAACGCAGGATCCTGATAAACTTTGTCCCATAGCCATCCAAGTTTTTCCAATAGGCGCCCGCTAATACTTCCTTCT , CM000685.2:g.154903948_154903949insATCATATACCAATGTATGTAGCTGCGGCAAAGGTCTTACGTTATTGAACGCAGGATCCTGATAAACTTTGTCCCATAGCCATCCAAGTTTTTCCAATAGGCGCCCGCTAATACTTCCTTCT | GRCh38 |
| NC_000023.10:g.154132223_154132224insATCATATACCAATGTATGTAGCTGCGGCAAAGGTCTTACGTTATTGAACGCAGGATCCTGATAAACTTTGTCCCATAGCCATCCAAGTTTTTCCAATAGGCGCCCGCTAATACTTCCTTCT , CM000685.1:g.154132223_154132224insATCATATACCAATGTATGTAGCTGCGGCAAAGGTCTTACGTTATTGAACGCAGGATCCTGATAAACTTTGTCCCATAGCCATCCAAGTTTTTCCAATAGGCGCCCGCTAATACTTCCTTCT | GRCh37 |
| NC_000023.9:g.153785417_153785418insATCATATACCAATGTATGTAGCTGCGGCAAAGGTCTTACGTTATTGAACGCAGGATCCTGATAAACTTTGTCCCATAGCCATCCAAGTTTTTCCAATAGGCGCCCGCTAATACTTCCTTCT | NCBI36 |
| NG_011403.1:g.123776_123777insGAAGGAAGTATTAGCGGGCGCCTATTGGAAAAACTTGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA | |
| NG_011403.2:g.123776_123777insGAAGGAAGTATTAGCGGGCGCCTATTGGAAAAACTTGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5956_5957insGAAGGAAGTATTAGCGGGCGCCTATTGGAAAAACTTGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA MANE Select | ENSP00000353393.4:p.Lys1986ArgfsTer5 | |
| ENST00000360256.8:c.5956_5957insGAAGGAAGTATTAGCGGGCGCCTATTGGAAAAACTTGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA | ENSP00000353393.4:p.Lys1986ArgfsTer5 | |
| NM_000132.3:c.5956_5957insGAAGGAAGTATTAGCGGGCGCCTATTGGAAAAACTTGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA | NP_000123.1:p.Lys1986ArgfsTer5 | |
| XM_011531126.1:c.5851_5852insGAAGGAAGTATTAGCGGGCGCCTATTGGAAAAACTTGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA | XP_011529428.1:p.Lys1951ArgfsTer5 | |
| NM_000132.4:c.5956_5957insGAAGGAAGTATTAGCGGGCGCCTATTGGAAAAACTTGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA MANE Select | NP_000123.1:p.Lys1986ArgfsTer5 |