Linked Data
gnomAD v4:
21-31667429-ATCTTTTCACTTTGAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667431_31667445del , CM000683.2:g.31667431_31667445del | GRCh38 |
| NC_000021.8:g.33039744_33039758del , CM000683.1:g.33039744_33039758del | GRCh37 |
| NC_000021.7:g.31961615_31961629del | NCBI36 |
| NG_008689.1:g.12810_12824del , LRG_652:g.12810_12824del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.357+56_357+70del MANE Select | ENSP00000270142.7:n.357+56_357+70del | |
| ENST00000270142.10:c.357+56_357+70del | ENSP00000270142.6:n.357+56_357+70del | |
| ENST00000389995.4:c.300+56_300+70del | ENSP00000374645.4:n.300+56_300+70del | |
| ENST00000470944.1:n.1285+56_1285+70del | ||
| NM_000454.4:c.357+56_357+70del , LRG_652t1:c.357+56_357+70del | NP_000445.1:n.357+56_357+70del | |
| NM_000454.5:c.357+56_357+70del MANE Select | NP_000445.1:n.357+56_357+70del |