Linked Data
dbSNP Id:
rs2141617214
gnomAD v3:
16-13944851-TGTCAGGCACC-T
gnomAD v4:
16-13944851-TGTCAGGCACC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13944852_13944861del , CM000678.2:g.13944852_13944861del | GRCh38 |
| NC_000016.9:g.14038709_14038718del , CM000678.1:g.14038709_14038718del | GRCh37 |
| NC_000016.8:g.13946210_13946219del | NCBI36 |
| NG_011442.1:g.29696_29705del , LRG_463:g.29696_29705del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2155+17_2155+26del | ENSP00000507912.1:n.2155+17_2155+26del | |
| ENST00000683962.1:c.*1711+17_*1711+26del | ENSP00000506854.1:n.*1711+17_*1711+26del | |
| ENST00000311895.8:c.2017+17_2017+26del MANE Select | ENSP00000310520.7:n.2017+17_2017+26del | |
| ENST00000311895.7:c.2017+17_2017+26del | ENSP00000310520.7:n.2017+17_2017+26del | |
| ENST00000389138.7:n.1294+17_1294+26del | ||
| ENST00000462862.1:c.330+17_330+26del | ENSP00000461322.1:n.330+17_330+26del | |
| NM_005236.2:c.2017+17_2017+26del , LRG_463t1:c.2017+17_2017+26del | NP_005227.1:n.2017+17_2017+26del | |
| XM_011522424.1:c.2155+17_2155+26del | XP_011520726.1:n.2155+17_2155+26del | |
| XM_011522425.1:c.1474+17_1474+26del | XP_011520727.1:n.1474+17_1474+26del | |
| XM_011522426.1:c.1228+17_1228+26del | XP_011520728.1:n.1228+17_1228+26del | |
| XM_011522427.1:c.667+17_667+26del | XP_011520729.1:n.667+17_667+26del | |
| XR_932805.1:n.2176+17_2176+26del | ||
| XM_011522424.3:c.2155+17_2155+26del | XP_011520726.1:n.2155+17_2155+26del | |
| XM_017023043.2:c.1228+17_1228+26del | XP_016878532.1:n.1228+17_1228+26del | |
| NM_005236.3:c.2017+17_2017+26del MANE Select | NP_005227.1:n.2017+17_2017+26del |