Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767500_28767507delinsAGCCGCCCCC , CM000676.2:g.28767500_28767507delinsAGCCGCCCCC | GRCh38 |
| NC_000014.8:g.29236706_29236713delinsAGCCGCCCCC , CM000676.1:g.29236706_29236713delinsAGCCGCCCCC | GRCh37 |
| NC_000014.7:g.28306457_28306464delinsAGCCGCCCCC | NCBI36 |
| NG_009367.1:g.5420_5427delinsAGCCGCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.221_228delinsAGCCGCCCCC | ENSP00000516406.1:p.Pro74GlnfsTer? | |
| ENST00000313071.7:c.221_228delinsAGCCGCCCCC MANE Select | ENSP00000339004.3:p.Pro74GlnfsTer? | |
| ENST00000313071.6:c.221_228delinsAGCCGCCCCC | ENSP00000339004.3:p.Pro74GlnfsTer? | |
| NM_005249.4:c.221_228delinsAGCCGCCCCC | NP_005240.3:p.Pro74GlnfsTer? | |
| NM_005249.5:c.221_228delinsAGCCGCCCCC MANE Select | NP_005240.3:p.Pro74GlnfsTer? |