Linked Data
gnomAD v4:
10-30313977-GATT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313982_30313984del , CM000672.2:g.30313982_30313984del | GRCh38 |
| NC_000010.10:g.30602911_30602913del , CM000672.1:g.30602911_30602913del | GRCh37 |
| NC_000010.9:g.30642917_30642919del | NCBI36 |
| NG_028096.1:g.40359_40361del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1387-9_1387-7del MANE Select | ENSP00000263063.3:n.1387-9_1387-7del | |
| ENST00000263063.8:c.1387-9_1387-7del | ENSP00000263063.3:n.1387-9_1387-7del | |
| ENST00000488290.5:n.3142-9_3142-7del | ||
| NM_018109.3:c.1387-9_1387-7del | NP_060579.3:n.1387-9_1387-7del | |
| NM_018109.4:c.1387-9_1387-7del MANE Select | NP_060579.3:n.1387-9_1387-7del |