Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54465857_54465858insAGGAAGGCCGGTGTTCCACGATAAATGAGAGCCTCTCAAAGTAAAATAAGTACATAAACAACAGCCT , CM000685.2:g.54465857_54465858insAGGAAGGCCGGTGTTCCACGATAAATGAGAGCCTCTCAAAGTAAAATAAGTACATAAACAACAGCCT | GRCh38 |
| NC_000023.10:g.54492290_54492291insAGGAAGGCCGGTGTTCCACGATAAATGAGAGCCTCTCAAAGTAAAATAAGTACATAAACAACAGCCT , CM000685.1:g.54492290_54492291insAGGAAGGCCGGTGTTCCACGATAAATGAGAGCCTCTCAAAGTAAAATAAGTACATAAACAACAGCCT | GRCh37 |
| NC_000023.9:g.54509015_54509016insAGGAAGGCCGGTGTTCCACGATAAATGAGAGCCTCTCAAAGTAAAATAAGTACATAAACAACAGCCT | NCBI36 |
| NG_008054.1:g.35309_35310insAGGCTGTTGTTTATGTACTTATTTTACTTTGAGAGGCTCTCATTTATCGTGGAACACCGGCCTTCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.1341-6_1341-5insAGGCTGTTGTTTATGTACTTATTTTACTTTGAGAGGCTCTCATTTATCGTGGAACACCGGCCTTCCT MANE Select | ENSP00000364277.3:n.1341-6_1341-5insAGGCTGTTGTTTATGTACTTATTTT... | |
| ENST00000375135.3:c.1341-6_1341-5insAGGCTGTTGTTTATGTACTTATTTTACTTTGAGAGGCTCTCATTTATCGTGGAACACCGGCCTTCCT | ENSP00000364277.3:n.1341-6_1341-5insAGGCTGTTGTTTATGTACTTATTTT... | |
| NM_004463.2:c.1341-6_1341-5insAGGCTGTTGTTTATGTACTTATTTTACTTTGAGAGGCTCTCATTTATCGTGGAACACCGGCCTTCCT | NP_004454.2:n.1341-6_1341-5insAGGCTGTTGTTTATGTACTTATTTTACTTTG... | |
| NM_004463.3:c.1341-6_1341-5insAGGCTGTTGTTTATGTACTTATTTTACTTTGAGAGGCTCTCATTTATCGTGGAACACCGGCCTTCCT MANE Select | NP_004454.2:n.1341-6_1341-5insAGGCTGTTGTTTATGTACTTATTTTACTTTG... |