Linked Data
dbSNP Id:
rs2032489021
gnomAD v3:
16-13945017-CCCCAGA-C
gnomAD v4:
16-13945017-CCCCAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13945018_13945023del , CM000678.2:g.13945018_13945023del | GRCh38 |
| NC_000016.9:g.14038875_14038880del , CM000678.1:g.14038875_14038880del | GRCh37 |
| NC_000016.8:g.13946376_13946381del | NCBI36 |
| NG_011442.1:g.29862_29867del , LRG_463:g.29862_29867del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2155+183_2155+188del | ENSP00000507912.1:n.2155+183_2155+188del | |
| ENST00000683962.1:c.*1711+183_*1711+188del | ENSP00000506854.1:n.*1711+183_*1711+188del | |
| ENST00000311895.8:c.2017+183_2017+188del MANE Select | ENSP00000310520.7:n.2017+183_2017+188del | |
| ENST00000311895.7:c.2017+183_2017+188del | ENSP00000310520.7:n.2017+183_2017+188del | |
| ENST00000389138.7:n.1294+183_1294+188del | ||
| ENST00000462862.1:c.330+183_330+188del | ENSP00000461322.1:n.330+183_330+188del | |
| NM_005236.2:c.2017+183_2017+188del , LRG_463t1:c.2017+183_2017+188del | NP_005227.1:n.2017+183_2017+188del | |
| XM_011522424.1:c.2155+183_2155+188del | XP_011520726.1:n.2155+183_2155+188del | |
| XM_011522425.1:c.1474+183_1474+188del | XP_011520727.1:n.1474+183_1474+188del | |
| XM_011522426.1:c.1228+183_1228+188del | XP_011520728.1:n.1228+183_1228+188del | |
| XM_011522427.1:c.667+183_667+188del | XP_011520729.1:n.667+183_667+188del | |
| XR_932805.1:n.2176+183_2176+188del | ||
| XM_011522424.3:c.2155+183_2155+188del | XP_011520726.1:n.2155+183_2155+188del | |
| XM_017023043.2:c.1228+183_1228+188del | XP_016878532.1:n.1228+183_1228+188del | |
| NM_005236.3:c.2017+183_2017+188del MANE Select | NP_005227.1:n.2017+183_2017+188del |