Linked Data
gnomAD v2:
5-7891433-G-GTTTTTTT
gnomAD v3:
5-7891320-G-GTTTTTTT
gnomAD v4:
5-7891320-G-GTTTTTTT
MyVariant Identifiers:
chr5:g.7891433_7891434insTTTTTTT (hg19)
chr5:g.7891320_7891321insTTTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7891322_7891323insTTTTTTT , CM000667.2:g.7891322_7891323insTTTTTTT | GRCh38 |
| NC_000005.9:g.7891435_7891436insTTTTTTT , CM000667.1:g.7891435_7891436insTTTTTTT | GRCh37 |
| NC_000005.8:g.7944435_7944436insTTTTTTT | NCBI36 |
| NG_008856.1:g.27219_27220insTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440940.7:c.1328-50_1328-49insTTTTTTT MANE Select | ENSP00000402510.2:n.1328-50_1328-49insTTTTTTT | |
| ENST00000264668.6:c.1409-50_1409-49insTTTTTTT | ENSP00000264668.2:n.1409-50_1409-49insTTTTTTT | |
| ENST00000440940.6:c.1328-50_1328-49insTTTTTTT | ENSP00000402510.2:n.1328-50_1328-49insTTTTTTT | |
| ENST00000507414.1:n.68-50_68-49insTTTTTTT | ||
| ENST00000508101.5:n.568-50_568-49insTTTTTTT | ||
| ENST00000510525.5:c.1264-50_1264-49insTTTTTTT | ||
| ENST00000511461.5:c.1241-50_1241-49insTTTTTTT | ||
| ENST00000512311.5:n.307-50_307-49insTTTTTTT | ||
| ENST00000513439.5:c.*1035-50_*1035-49insTTTTTTT | ENSP00000426710.1:n.*1035-50_*1035-49insTTTTTTT | |
| NM_002454.2:c.1328-50_1328-49insTTTTTTT | NP_002445.2:n.1328-50_1328-49insTTTTTTT | |
| NM_024010.2:c.1409-50_1409-49insTTTTTTT | NP_076915.2:n.1409-50_1409-49insTTTTTTT | |
| XM_011514043.1:c.1409-50_1409-49insTTTTTTT | XP_011512345.1:n.1409-50_1409-49insTTTTTTT | |
| XM_011514044.1:c.1328-50_1328-49insTTTTTTT | XP_011512346.1:n.1328-50_1328-49insTTTTTTT | |
| XR_241702.1:n.1342-50_1342-49insTTTTTTT | ||
| XR_241703.1:n.1335-50_1335-49insTTTTTTT | ||
| XR_925614.1:n.1454-50_1454-49insTTTTTTT | ||
| XR_925615.1:n.1606-50_1606-49insTTTTTTT | ||
| NM_001364440.1:c.1328-50_1328-49insTTTTTTT | NP_001351369.1:n.1328-50_1328-49insTTTTTTT | |
| NM_001364441.1:c.1328-50_1328-49insTTTTTTT | NP_001351370.1:n.1328-50_1328-49insTTTTTTT | |
| NM_001364442.1:c.1328-50_1328-49insTTTTTTT | NP_001351371.1:n.1328-50_1328-49insTTTTTTT | |
| NM_024010.3:c.1328-50_1328-49insTTTTTTT | NP_076915.3:n.1328-50_1328-49insTTTTTTT | |
| NR_134480.1:n.1451-50_1451-49insTTTTTTT | ||
| NR_134481.1:n.1376-50_1376-49insTTTTTTT | ||
| NR_134482.1:n.1311-50_1311-49insTTTTTTT | ||
| NR_157168.1:n.1381-50_1381-49insTTTTTTT | ||
| NR_157169.1:n.1241-50_1241-49insTTTTTTT | ||
| NR_157170.1:n.1407-50_1407-49insTTTTTTT | ||
| NR_157171.1:n.1264-50_1264-49insTTTTTTT | ||
| NR_157172.1:n.1178-50_1178-49insTTTTTTT | ||
| NR_157173.1:n.1418-50_1418-49insTTTTTTT | ||
| NR_157174.1:n.1419-50_1419-49insTTTTTTT | ||
| NR_157175.1:n.1573-50_1573-49insTTTTTTT | ||
| NR_157176.1:n.1736-50_1736-49insTTTTTTT | ||
| NR_157177.1:n.1416-50_1416-49insTTTTTTT | ||
| NR_157178.1:n.1444-50_1444-49insTTTTTTT | ||
| XM_024446063.1:c.1373-50_1373-49insTTTTTTT | XP_024301831.1:n.1373-50_1373-49insTTTTTTT | |
| XM_024446064.1:c.1328-50_1328-49insTTTTTTT | XP_024301832.1:n.1328-50_1328-49insTTTTTTT | |
| XR_001742071.1:n.1606-50_1606-49insTTTTTTT | ||
| XR_001742072.1:n.1583-50_1583-49insTTTTTTT | ||
| XR_001742074.1:n.1342-50_1342-49insTTTTTTT | ||
| XR_001742075.1:n.1494-50_1494-49insTTTTTTT | ||
| XR_001742076.1:n.1571-50_1571-49insTTTTTTT | ||
| XR_001742077.1:n.1594-50_1594-49insTTTTTTT | ||
| NM_001364440.2:c.1328-50_1328-49insTTTTTTT | NP_001351369.1:n.1328-50_1328-49insTTTTTTT | |
| NM_001364441.2:c.1328-50_1328-49insTTTTTTT | NP_001351370.1:n.1328-50_1328-49insTTTTTTT | |
| NM_001364442.2:c.1328-50_1328-49insTTTTTTT | NP_001351371.1:n.1328-50_1328-49insTTTTTTT | |
| NM_002454.3:c.1328-50_1328-49insTTTTTTT MANE Select | NP_002445.2:n.1328-50_1328-49insTTTTTTT | |
| NM_024010.4:c.1328-50_1328-49insTTTTTTT | NP_076915.3:n.1328-50_1328-49insTTTTTTT | |
| NR_134480.2:n.1407-50_1407-49insTTTTTTT | ||
| NR_134481.2:n.1332-50_1332-49insTTTTTTT | ||
| NR_134482.2:n.1267-50_1267-49insTTTTTTT | ||
| NR_157168.2:n.1381-50_1381-49insTTTTTTT | ||
| NR_157169.2:n.1241-50_1241-49insTTTTTTT | ||
| NR_157170.2:n.1407-50_1407-49insTTTTTTT | ||
| NR_157171.2:n.1264-50_1264-49insTTTTTTT | ||
| NR_157172.2:n.1178-50_1178-49insTTTTTTT | ||
| NR_157173.2:n.1418-50_1418-49insTTTTTTT | ||
| NR_157174.2:n.1419-50_1419-49insTTTTTTT | ||
| NR_157175.2:n.1573-50_1573-49insTTTTTTT | ||
| NR_157176.2:n.1736-50_1736-49insTTTTTTT | ||
| NR_157177.2:n.1416-50_1416-49insTTTTTTT | ||
| NR_157178.2:n.1444-50_1444-49insTTTTTTT |