Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2317687_2317694delinsGAGGAGGA , CM000678.2:g.2317687_2317694delinsGAGGAGGA | GRCh38 |
| NC_000016.9:g.2367688_2367695delinsGAGGAGGA , CM000678.1:g.2367688_2367695delinsGAGGAGGA | GRCh37 |
| NC_000016.8:g.2307689_2307696delinsGAGGAGGA | NCBI36 |
| NG_011790.1:g.28053_28060delinsTCCTCCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.944_951delinsTCCTCCTC MANE Select | ENSP00000301732.5:p.Phe315= | |
| ENST00000301732.9:c.944_951delinsTCCTCCTC | ENSP00000301732.5:p.Phe315= | |
| ENST00000382381.7:c.944_951delinsTCCTCCTC | ENSP00000371818.3:p.Phe315= | |
| ENST00000563623.5:n.1507_1514delinsTCCTCCTC | ||
| NM_001089.2:c.944_951delinsTCCTCCTC | NP_001080.2:p.Phe315= | |
| NM_001089.3:c.944_951delinsTCCTCCTC MANE Select | NP_001080.2:p.Phe315= |