Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49451670_49451672del , CM000668.2:g.49451670_49451672del | GRCh38 |
| NC_000006.11:g.49419383_49419385del , CM000668.1:g.49419383_49419385del | GRCh37 |
| NC_000006.10:g.49527342_49527344del | NCBI36 |
| NG_007100.1:g.16472_16474del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1130_1132del MANE Select | ENSP00000274813.3:p.Ala377del | |
| ENST00000274813.3:c.1130_1132del | ENSP00000274813.3:p.Ala377del | |
| NM_000255.3:c.1130_1132del | NP_000246.2:p.Ala377del | |
| XM_005249143.2:c.1130_1132del | XP_005249200.1:p.Ala377del | |
| XM_005249143.3:c.1130_1132del | XP_005249200.1:p.Ala377del | |
| NM_000255.4:c.1130_1132del MANE Select | NP_000246.2:p.Ala377del |