Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7702734_7702767delinsCAGGCAGTATCCAAGATATGAGTGTTCTTCCTGT , CM000686.2:g.7702734_7702767delinsCAGGCAGTATCCAAGATATGAGTGTTCTTCCTGT | GRCh38 |
| NC_000024.9:g.7570775_7570808delinsCAGGCAGTATCCAAGATATGAGTGTTCTTCCTGT , CM000686.1:g.7570775_7570808delinsCAGGCAGTATCCAAGATATGAGTGTTCTTCCTGT | GRCh37 |
| NC_000024.8:g.7630775_7630808delinsCAGGCAGTATCCAAGATATGAGTGTTCTTCCTGT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651261.1:n.677-1504_677-1471delinsACAGGAAGAACACTCATATCTTGGATACTGCCTG |