Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946396_43946397delinsGC , CM000684.2:g.43946396_43946397delinsGC | GRCh38 |
| NC_000022.10:g.44342276_44342277delinsGC , CM000684.1:g.44342276_44342277delinsGC | GRCh37 |
| NC_000022.9:g.42673609_42673610delinsGC | NCBI36 |
| NG_008631.1:g.27658_27659delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.*14_*15delinsGC MANE Select | ENSP00000216180.3:n.*14_*15delinsGC | |
| ENST00000216180.7:c.*14_*15delinsGC | ENSP00000216180.3:n.*14_*15delinsGC | |
| ENST00000406117.6:c.*849+1601_*849+1602delinsGC | ENSP00000384668.2:n.*849+1601_*849+1602delinsGC | |
| ENST00000423180.2:c.*14_*15delinsGC | ENSP00000397987.2:n.*14_*15delinsGC | |
| NM_025225.2:c.*14_*15delinsGC | NP_079501.2:n.*14_*15delinsGC | |
| NM_025225.3:c.*14_*15delinsGC MANE Select | NP_079501.2:n.*14_*15delinsGC |