Linked Data
gnomAD v4:
12-14978083-CCAAGTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14978088_14978093del , CM000674.2:g.14978088_14978093del | GRCh38 |
| NC_000012.11:g.15131022_15131027del , CM000674.1:g.15131022_15131027del | GRCh37 |
| NC_000012.10:g.15022289_15022294del | NCBI36 |
| NG_016859.1:g.10067_10072del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.76_81del MANE Select | ENSP00000266395.2:p.Phe26_Lys27del | |
| ENST00000266395.2:c.76_81del | ENSP00000266395.2:p.Phe26_Lys27del | |
| NM_006205.2:c.76_81del | NP_006196.1:p.Phe26_Lys27del | |
| XR_931376.1:n.175+11398_175+11403del | ||
| XM_017019431.2:c.76_81del | XP_016874920.1:p.Phe26_Lys27del | |
| XR_931376.2:n.389+11398_389+11403del | ||
| NM_006205.3:c.76_81del MANE Select | NP_006196.1:p.Phe26_Lys27del |