Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516163_75516175delinsTCCTTCCCTGAGC , CM000679.2:g.75516163_75516175delinsTCCTTCCCTGAGC | GRCh38 |
| NC_000017.10:g.73512244_73512256delinsTCCTTCCCTGAGC , CM000679.1:g.73512244_73512256delinsTCCTTCCCTGAGC | GRCh37 |
| NC_000017.9:g.71023839_71023851delinsTCCTTCCCTGAGC | NCBI36 |
| NG_013041.1:g.4636_4648delinsTCCTTCCCTGAGC | |
| NG_033152.1:g.4409_4421delinsGCTCAGGGAAGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-306_-294delinsTCCTTCCCTGAGC | ENSP00000406559.4:n.-306_-294delinsTCCTTCCCTGAGC | |
| ENST00000679370.1:n.220_232delinsTCCTTCCCTGAGC | ||
| ENST00000434205.7:c.-306_-294delinsTCCTTCCCTGAGC | ENSP00000406559.3:n.-306_-294delinsTCCTTCCCTGAGC | |
| XM_006721821.2:c.-471_-459delinsTCCTTCCCTGAGC | XP_006721884.1:n.-471_-459delinsTCCTTCCCTGAGC |