Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135859051_135859103delinsCGGCTAATTTTTGTATTTTTAGTAGAGAAAATGGGTTTTCGCCATGTTGGCCA , CM000664.2:g.135859051_135859103delinsCGGCTAATTTTTGTATTTTTAGTAGAGAAAATGGGTTTTCGCCATGTTGGCCA | GRCh38 |
| NC_000002.11:g.136616621_136616673delinsCGGCTAATTTTTGTATTTTTAGTAGAGAAAATGGGTTTTCGCCATGTTGGCCA , CM000664.1:g.136616621_136616673delinsCGGCTAATTTTTGTATTTTTAGTAGAGAAAATGGGTTTTCGCCATGTTGGCCA | GRCh37 |
| NC_000002.10:g.136333091_136333143delinsCGGCTAATTTTTGTATTTTTAGTAGAGAAAATGGGTTTTCGCCATGTTGGCCA | NCBI36 |
| NG_008104.2:g.1067_1119delinsTGGCCAACATGGCGAAAACCCATTTTCTCTACTAAAAATACAAAAATTAGCCG , LRG_338:g.1067_1119delinsTGGCCAACATGGCGAAAACCCATTTTCTCTACTAAAAATACAAAAATTAGCCG | |
| NG_008958.1:g.22339_22391delinsTGGCCAACATGGCGAAAACCCATTTTCTCTACTAAAAATACAAAAATTAGCCG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264156.3:c.1362+198_1362+250delinsTGGCCAACATGGCGAAAACCCATTTTCTCTACTAAAAATACAAAAATTAGCCG MANE Select | ENSP00000264156.2:n.1362+198_1362+250deli... | |
| ENST00000264156.2:c.1362+198_1362+250delinsTGGCCAACATGGCGAAAACCCATTTTCTCTACTAAAAATACAAAAATTAGCCG | ENSP00000264156.2:n.1362+198_1362+250deli... | |
| ENST00000492091.1:n.181+3504_181+3556delinsTGGCCAACATGGCGAAAACCCATTTTCTCTACTAAAAATACAAAAATTAGCCG | ||
| NM_005915.5:c.1362+198_1362+250delinsTGGCCAACATGGCGAAAACCCATTTTCTCTACTAAAAATACAAAAATTAGCCG | NP_005906.2:n.1362+198_1362+250delinsTGGC... | |
| NM_005915.6:c.1362+198_1362+250delinsTGGCCAACATGGCGAAAACCCATTTTCTCTACTAAAAATACAAAAATTAGCCG MANE Select | NP_005906.2:n.1362+198_1362+250delinsTGGC... |