Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49451650_49451651del , CM000668.2:g.49451650_49451651del | GRCh38 |
| NC_000006.11:g.49419363_49419364del , CM000668.1:g.49419363_49419364del | GRCh37 |
| NC_000006.10:g.49527322_49527323del | NCBI36 |
| NG_007100.1:g.16489_16490del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1147_1148del MANE Select | ENSP00000274813.3:p.Gln383ValfsTer8 | |
| ENST00000274813.3:c.1147_1148del | ENSP00000274813.3:p.Gln383ValfsTer8 | |
| NM_000255.3:c.1147_1148del | NP_000246.2:p.Gln383ValfsTer8 | |
| XM_005249143.2:c.1147_1148del | XP_005249200.1:p.Gln383ValfsTer8 | |
| XM_005249143.3:c.1147_1148del | XP_005249200.1:p.Gln383ValfsTer8 | |
| NM_000255.4:c.1147_1148del MANE Select | NP_000246.2:p.Gln383ValfsTer8 |