Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40932043_40932052delinsTCCTCTGGGA , CM000677.2:g.40932043_40932052delinsTCCTCTGGGA | GRCh38 |
| NC_000015.9:g.41224241_41224250delinsTCCTCTGGGA , CM000677.1:g.41224241_41224250delinsTCCTCTGGGA | GRCh37 |
| NC_000015.8:g.39011533_39011542delinsTCCTCTGGGA | NCBI36 |
| NG_046974.1:g.7711_7720delinsTCCTCTGGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.659-128_659-119delinsTCCTCTGGGA MANE Select | ENSP00000249749.5:n.659-128_659-119delinsTCCTCTGGGA | |
| ENST00000249749.6:c.659-128_659-119delinsTCCTCTGGGA | ENSP00000249749.5:n.659-128_659-119delinsTCCTCTGGGA | |
| ENST00000559440.1:n.888-128_888-119delinsTCCTCTGGGA | ||
| NM_019074.3:c.659-128_659-119delinsTCCTCTGGGA | NP_061947.1:n.659-128_659-119delinsTCCTCTGGGA | |
| NM_019074.4:c.659-128_659-119delinsTCCTCTGGGA MANE Select | NP_061947.1:n.659-128_659-119delinsTCCTCTGGGA |