Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66240176_66240177insTTCTATGGCAAGAGTCTATACATTGGTAGAAGAGCTGCGTAAGAAGGATGGGAAAGAA , CM000679.2:g.66240176_66240177insTTCTATGGCAAGAGTCTATACATTGGTAGAAGAGCTGCGTAAGAAGGATGGGAAAGAA | GRCh38 |
| NC_000017.10:g.64236294_64236295insTTCTATGGCAAGAGTCTATACATTGGTAGAAGAGCTGCGTAAGAAGGATGGGAAAGAA , CM000679.1:g.64236294_64236295insTTCTATGGCAAGAGTCTATACATTGGTAGAAGAGCTGCGTAAGAAGGATGGGAAAGAA | GRCh37 |
| NC_000017.9:g.61666756_61666757insTTCTATGGCAAGAGTCTATACATTGGTAGAAGAGCTGCGTAAGAAGGATGGGAAAGAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000577982.1:c.-43-10755_-43-10754insTTCTTTCCCATCCTTCTTACGCAGCTCTTCTACCAATGTATAGACTCTTGCCATAGAA | ENSP00000464301.1:n.-43-10755_-43-10754in... |