Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184611_42184617delinsGCTCCGC , CM000679.2:g.42184611_42184617delinsGCTCCGC | GRCh38 |
| NC_000017.10:g.40336629_40336635delinsGCTCCGC , CM000679.1:g.40336629_40336635delinsGCTCCGC | GRCh37 |
| NC_000017.9:g.37590155_37590161delinsGCTCCGC | NCBI36 |
| NG_011448.1:g.5836_5842delinsGCGGAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.22-89_22-83delinsGCGGAGC MANE Select | ENSP00000293330.1:n.22-89_22-83delinsGCGGAGC | |
| NM_001524.1:c.22-89_22-83delinsGCGGAGC MANE Select | NP_001515.1:n.22-89_22-83delinsGCGGAGC |