Linked Data
dbSNP Id:
rs900935674
gnomAD v3:
16-13935567-AATCCTGAAAGAACCCCTC-A
gnomAD v4:
16-13935567-AATCCTGAAAGAACCCCTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13935569_13935586del , CM000678.2:g.13935569_13935586del | GRCh38 |
| NC_000016.9:g.14029426_14029443del , CM000678.1:g.14029426_14029443del | GRCh37 |
| NC_000016.8:g.13936927_13936944del | NCBI36 |
| NG_011442.1:g.20413_20430del , LRG_463:g.20413_20430del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682568.1:n.1715_1732del | ||
| ENST00000682617.1:c.1775_1792del | ENSP00000507912.1:p.Ile592_Leu597del | |
| ENST00000682826.1:c.*951_*968del | ENSP00000507274.1:n.*951_*968del | |
| ENST00000682909.1:n.3677_3694del | ||
| ENST00000683277.1:n.3282_3299del | ||
| ENST00000683407.1:n.1645_1662del | ||
| ENST00000683962.1:c.*1331_*1348del | ENSP00000506854.1:n.*1331_*1348del | |
| ENST00000311895.8:c.1637_1654del MANE Select | ENSP00000310520.7:p.Ile546_Leu551del | |
| ENST00000311895.7:c.1637_1654del | ENSP00000310520.7:p.Ile546_Leu551del | |
| ENST00000389138.7:n.914_931del | ||
| NM_005236.2:c.1637_1654del , LRG_463t1:c.1637_1654del | NP_005227.1:p.Ile546_Leu551del | |
| XM_011522424.1:c.1775_1792del | XP_011520726.1:p.Ile592_Leu597del | |
| XM_011522425.1:c.1094_1111del | XP_011520727.1:p.Ile365_Leu370del | |
| XM_011522426.1:c.848_865del | XP_011520728.1:p.Ile283_Leu288del | |
| XM_011522427.1:c.287_304del | XP_011520729.1:p.Ile96_Leu101del | |
| XR_932805.1:n.1796_1813del | ||
| XM_011522424.3:c.1775_1792del | XP_011520726.1:p.Ile592_Leu597del | |
| XM_017023043.2:c.848_865del | XP_016878532.1:p.Ile283_Leu288del | |
| NM_005236.3:c.1637_1654del MANE Select | NP_005227.1:p.Ile546_Leu551del |