Linked Data
dbSNP Id:
rs1737524966
gnomAD v2:
5-7891425-TAGGTAAGG-T
gnomAD v3:
5-7891312-TAGGTAAGG-T
gnomAD v4:
5-7891312-TAGGTAAGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7891313_7891320del , CM000667.2:g.7891313_7891320del | GRCh38 |
| NC_000005.9:g.7891426_7891433del , CM000667.1:g.7891426_7891433del | GRCh37 |
| NC_000005.8:g.7944426_7944433del | NCBI36 |
| NG_008856.1:g.27210_27217del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440940.7:c.1328-59_1328-52del MANE Select | ENSP00000402510.2:n.1328-59_1328-52del | |
| ENST00000264668.6:c.1409-59_1409-52del | ENSP00000264668.2:n.1409-59_1409-52del | |
| ENST00000440940.6:c.1328-59_1328-52del | ENSP00000402510.2:n.1328-59_1328-52del | |
| ENST00000507414.1:n.68-59_68-52del | ||
| ENST00000508101.5:n.568-59_568-52del | ||
| ENST00000510525.5:c.1264-59_1264-52del | ||
| ENST00000511461.5:c.1241-59_1241-52del | ||
| ENST00000512311.5:n.307-59_307-52del | ||
| ENST00000513439.5:c.*1035-59_*1035-52del | ENSP00000426710.1:n.*1035-59_*1035-52del | |
| NM_002454.2:c.1328-59_1328-52del | NP_002445.2:n.1328-59_1328-52del | |
| NM_024010.2:c.1409-59_1409-52del | NP_076915.2:n.1409-59_1409-52del | |
| XM_011514043.1:c.1409-59_1409-52del | XP_011512345.1:n.1409-59_1409-52del | |
| XM_011514044.1:c.1328-59_1328-52del | XP_011512346.1:n.1328-59_1328-52del | |
| XR_241702.1:n.1342-59_1342-52del | ||
| XR_241703.1:n.1335-59_1335-52del | ||
| XR_925614.1:n.1454-59_1454-52del | ||
| XR_925615.1:n.1606-59_1606-52del | ||
| NM_001364440.1:c.1328-59_1328-52del | NP_001351369.1:n.1328-59_1328-52del | |
| NM_001364441.1:c.1328-59_1328-52del | NP_001351370.1:n.1328-59_1328-52del | |
| NM_001364442.1:c.1328-59_1328-52del | NP_001351371.1:n.1328-59_1328-52del | |
| NM_024010.3:c.1328-59_1328-52del | NP_076915.3:n.1328-59_1328-52del | |
| NR_134480.1:n.1451-59_1451-52del | ||
| NR_134481.1:n.1376-59_1376-52del | ||
| NR_134482.1:n.1311-59_1311-52del | ||
| NR_157168.1:n.1381-59_1381-52del | ||
| NR_157169.1:n.1241-59_1241-52del | ||
| NR_157170.1:n.1407-59_1407-52del | ||
| NR_157171.1:n.1264-59_1264-52del | ||
| NR_157172.1:n.1178-59_1178-52del | ||
| NR_157173.1:n.1418-59_1418-52del | ||
| NR_157174.1:n.1419-59_1419-52del | ||
| NR_157175.1:n.1573-59_1573-52del | ||
| NR_157176.1:n.1736-59_1736-52del | ||
| NR_157177.1:n.1416-59_1416-52del | ||
| NR_157178.1:n.1444-59_1444-52del | ||
| XM_024446063.1:c.1373-59_1373-52del | XP_024301831.1:n.1373-59_1373-52del | |
| XM_024446064.1:c.1328-59_1328-52del | XP_024301832.1:n.1328-59_1328-52del | |
| XR_001742071.1:n.1606-59_1606-52del | ||
| XR_001742072.1:n.1583-59_1583-52del | ||
| XR_001742074.1:n.1342-59_1342-52del | ||
| XR_001742075.1:n.1494-59_1494-52del | ||
| XR_001742076.1:n.1571-59_1571-52del | ||
| XR_001742077.1:n.1594-59_1594-52del | ||
| NM_001364440.2:c.1328-59_1328-52del | NP_001351369.1:n.1328-59_1328-52del | |
| NM_001364441.2:c.1328-59_1328-52del | NP_001351370.1:n.1328-59_1328-52del | |
| NM_001364442.2:c.1328-59_1328-52del | NP_001351371.1:n.1328-59_1328-52del | |
| NM_002454.3:c.1328-59_1328-52del MANE Select | NP_002445.2:n.1328-59_1328-52del | |
| NM_024010.4:c.1328-59_1328-52del | NP_076915.3:n.1328-59_1328-52del | |
| NR_134480.2:n.1407-59_1407-52del | ||
| NR_134481.2:n.1332-59_1332-52del | ||
| NR_134482.2:n.1267-59_1267-52del | ||
| NR_157168.2:n.1381-59_1381-52del | ||
| NR_157169.2:n.1241-59_1241-52del | ||
| NR_157170.2:n.1407-59_1407-52del | ||
| NR_157171.2:n.1264-59_1264-52del | ||
| NR_157172.2:n.1178-59_1178-52del | ||
| NR_157173.2:n.1418-59_1418-52del | ||
| NR_157174.2:n.1419-59_1419-52del | ||
| NR_157175.2:n.1573-59_1573-52del | ||
| NR_157176.2:n.1736-59_1736-52del | ||
| NR_157177.2:n.1416-59_1416-52del | ||
| NR_157178.2:n.1444-59_1444-52del |