Linked Data
gnomAD v3:
5-7891327-TCAGTAGTAGTGAATTAATAATTGC-T
gnomAD v4:
5-7891327-TCAGTAGTAGTGAATTAATAATTGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7891328_7891351del , CM000667.2:g.7891328_7891351del | GRCh38 |
| NC_000005.9:g.7891441_7891464del , CM000667.1:g.7891441_7891464del | GRCh37 |
| NC_000005.8:g.7944441_7944464del | NCBI36 |
| NG_008856.1:g.27225_27248del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440940.7:c.1328-44_1328-21del MANE Select | ENSP00000402510.2:n.1328-44_1328-21del | |
| ENST00000264668.6:c.1409-44_1409-21del | ENSP00000264668.2:n.1409-44_1409-21del | |
| ENST00000440940.6:c.1328-44_1328-21del | ENSP00000402510.2:n.1328-44_1328-21del | |
| ENST00000507414.1:n.68-44_68-21del | ||
| ENST00000508101.5:n.568-44_568-21del | ||
| ENST00000510525.5:c.1264-44_1264-21del | ||
| ENST00000511461.5:c.1241-44_1241-21del | ||
| ENST00000512311.5:n.307-44_307-21del | ||
| ENST00000513439.5:c.*1035-44_*1035-21del | ENSP00000426710.1:n.*1035-44_*1035-21del | |
| NM_002454.2:c.1328-44_1328-21del | NP_002445.2:n.1328-44_1328-21del | |
| NM_024010.2:c.1409-44_1409-21del | NP_076915.2:n.1409-44_1409-21del | |
| XM_011514043.1:c.1409-44_1409-21del | XP_011512345.1:n.1409-44_1409-21del | |
| XM_011514044.1:c.1328-44_1328-21del | XP_011512346.1:n.1328-44_1328-21del | |
| XR_241702.1:n.1342-44_1342-21del | ||
| XR_241703.1:n.1335-44_1335-21del | ||
| XR_925614.1:n.1454-44_1454-21del | ||
| XR_925615.1:n.1606-44_1606-21del | ||
| NM_001364440.1:c.1328-44_1328-21del | NP_001351369.1:n.1328-44_1328-21del | |
| NM_001364441.1:c.1328-44_1328-21del | NP_001351370.1:n.1328-44_1328-21del | |
| NM_001364442.1:c.1328-44_1328-21del | NP_001351371.1:n.1328-44_1328-21del | |
| NM_024010.3:c.1328-44_1328-21del | NP_076915.3:n.1328-44_1328-21del | |
| NR_134480.1:n.1451-44_1451-21del | ||
| NR_134481.1:n.1376-44_1376-21del | ||
| NR_134482.1:n.1311-44_1311-21del | ||
| NR_157168.1:n.1381-44_1381-21del | ||
| NR_157169.1:n.1241-44_1241-21del | ||
| NR_157170.1:n.1407-44_1407-21del | ||
| NR_157171.1:n.1264-44_1264-21del | ||
| NR_157172.1:n.1178-44_1178-21del | ||
| NR_157173.1:n.1418-44_1418-21del | ||
| NR_157174.1:n.1419-44_1419-21del | ||
| NR_157175.1:n.1573-44_1573-21del | ||
| NR_157176.1:n.1736-44_1736-21del | ||
| NR_157177.1:n.1416-44_1416-21del | ||
| NR_157178.1:n.1444-44_1444-21del | ||
| XM_024446063.1:c.1373-44_1373-21del | XP_024301831.1:n.1373-44_1373-21del | |
| XM_024446064.1:c.1328-44_1328-21del | XP_024301832.1:n.1328-44_1328-21del | |
| XR_001742071.1:n.1606-44_1606-21del | ||
| XR_001742072.1:n.1583-44_1583-21del | ||
| XR_001742074.1:n.1342-44_1342-21del | ||
| XR_001742075.1:n.1494-44_1494-21del | ||
| XR_001742076.1:n.1571-44_1571-21del | ||
| XR_001742077.1:n.1594-44_1594-21del | ||
| NM_001364440.2:c.1328-44_1328-21del | NP_001351369.1:n.1328-44_1328-21del | |
| NM_001364441.2:c.1328-44_1328-21del | NP_001351370.1:n.1328-44_1328-21del | |
| NM_001364442.2:c.1328-44_1328-21del | NP_001351371.1:n.1328-44_1328-21del | |
| NM_002454.3:c.1328-44_1328-21del MANE Select | NP_002445.2:n.1328-44_1328-21del | |
| NM_024010.4:c.1328-44_1328-21del | NP_076915.3:n.1328-44_1328-21del | |
| NR_134480.2:n.1407-44_1407-21del | ||
| NR_134481.2:n.1332-44_1332-21del | ||
| NR_134482.2:n.1267-44_1267-21del | ||
| NR_157168.2:n.1381-44_1381-21del | ||
| NR_157169.2:n.1241-44_1241-21del | ||
| NR_157170.2:n.1407-44_1407-21del | ||
| NR_157171.2:n.1264-44_1264-21del | ||
| NR_157172.2:n.1178-44_1178-21del | ||
| NR_157173.2:n.1418-44_1418-21del | ||
| NR_157174.2:n.1419-44_1419-21del | ||
| NR_157175.2:n.1573-44_1573-21del | ||
| NR_157176.2:n.1736-44_1736-21del | ||
| NR_157177.2:n.1416-44_1416-21del | ||
| NR_157178.2:n.1444-44_1444-21del |