Linked Data
dbSNP Id:
rs1326137027
gnomAD v3:
17-16941863-ACGTGGTCTTTTATG-A
gnomAD v4:
17-16941863-ACGTGGTCTTTTATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16941865_16941878del , CM000679.2:g.16941865_16941878del | GRCh38 |
| NC_000017.10:g.16845179_16845192del , CM000679.1:g.16845179_16845192del | GRCh37 |
| NC_000017.9:g.16785904_16785917del | NCBI36 |
| NG_007281.1:g.35212_35225del , LRG_120:g.35212_35225del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.446-1366_446-1353del MANE Select | ENSP00000261652.2:n.446-1366_446-1353del | |
| ENST00000261652.6:c.446-1366_446-1353del | ENSP00000261652.2:n.446-1366_446-1353del | |
| ENST00000579315.5:c.445+6861_445+6874del | ENSP00000464069.1:n.445+6861_445+6874del | |
| ENST00000581616.2:n.449-400_449-387del | ||
| ENST00000582931.5:n.349+6861_349+6874del | ||
| ENST00000583789.1:c.308-1366_308-1353del | ENSP00000462952.1:n.308-1366_308-1353del | |
| ENST00000584950.5:c.308-1366_308-1353del | ENSP00000463582.1:n.308-1366_308-1353del | |
| NM_012452.2:c.446-1366_446-1353del , LRG_120t1:c.446-1366_446-1353del | NP_036584.1:n.446-1366_446-1353del | |
| NM_012452.3:c.446-1366_446-1353del MANE Select | NP_036584.1:n.446-1366_446-1353del |