UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7891312_7891313insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT , CM000667.2:g.7891312_7891313insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000005.9:g.7891425_7891426insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT , CM000667.1:g.7891425_7891426insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000005.8:g.7944425_7944426insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_008856.1:g.27209_27210insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440940.7:c.1328-60_1328-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000402510.2:n.1328-60_1328-59insTGG... | |
| ENST00000264668.6:c.1409-60_1409-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ENSP00000264668.2:n.1409-60_1409-59insTGG... | |
| ENST00000440940.6:c.1328-60_1328-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ENSP00000402510.2:n.1328-60_1328-59insTGG... | |
| ENST00000507414.1:n.68-60_68-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000508101.5:n.568-60_568-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000510525.5:c.1264-60_1264-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000511461.5:c.1241-60_1241-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000512311.5:n.307-60_307-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000513439.5:c.*1035-60_*1035-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ENSP00000426710.1:n.*1035-60_*1035-59insT... | |
| NM_002454.2:c.1328-60_1328-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | NP_002445.2:n.1328-60_1328-59insTGGTAAGGT... | |
| NM_024010.2:c.1409-60_1409-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | NP_076915.2:n.1409-60_1409-59insTGGTAAGGT... | |
| XM_011514043.1:c.1409-60_1409-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | XP_011512345.1:n.1409-60_1409-59insTGGTAA... | |
| XM_011514044.1:c.1328-60_1328-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | XP_011512346.1:n.1328-60_1328-59insTGGTAA... | |
| XR_241702.1:n.1342-60_1342-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| XR_241703.1:n.1335-60_1335-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| XR_925614.1:n.1454-60_1454-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| XR_925615.1:n.1606-60_1606-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NM_001364440.1:c.1328-60_1328-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | NP_001351369.1:n.1328-60_1328-59insTGGTAA... | |
| NM_001364441.1:c.1328-60_1328-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | NP_001351370.1:n.1328-60_1328-59insTGGTAA... | |
| NM_001364442.1:c.1328-60_1328-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | NP_001351371.1:n.1328-60_1328-59insTGGTAA... | |
| NM_024010.3:c.1328-60_1328-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | NP_076915.3:n.1328-60_1328-59insTGGTAAGGT... | |
| NR_134480.1:n.1451-60_1451-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_134481.1:n.1376-60_1376-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_134482.1:n.1311-60_1311-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157168.1:n.1381-60_1381-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157169.1:n.1241-60_1241-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157170.1:n.1407-60_1407-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157171.1:n.1264-60_1264-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157172.1:n.1178-60_1178-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157173.1:n.1418-60_1418-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157174.1:n.1419-60_1419-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157175.1:n.1573-60_1573-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157176.1:n.1736-60_1736-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157177.1:n.1416-60_1416-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157178.1:n.1444-60_1444-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| XM_024446063.1:c.1373-60_1373-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | XP_024301831.1:n.1373-60_1373-59insTGGTAA... | |
| XM_024446064.1:c.1328-60_1328-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | XP_024301832.1:n.1328-60_1328-59insTGGTAA... | |
| XR_001742071.1:n.1606-60_1606-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| XR_001742072.1:n.1583-60_1583-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| XR_001742074.1:n.1342-60_1342-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| XR_001742075.1:n.1494-60_1494-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| XR_001742076.1:n.1571-60_1571-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| XR_001742077.1:n.1594-60_1594-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NM_001364440.2:c.1328-60_1328-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | NP_001351369.1:n.1328-60_1328-59insTGGTAA... | |
| NM_001364441.2:c.1328-60_1328-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | NP_001351370.1:n.1328-60_1328-59insTGGTAA... | |
| NM_001364442.2:c.1328-60_1328-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | NP_001351371.1:n.1328-60_1328-59insTGGTAA... | |
| NM_002454.3:c.1328-60_1328-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_002445.2:n.1328-60_1328-59insTGGTAAGGT... | |
| NM_024010.4:c.1328-60_1328-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | NP_076915.3:n.1328-60_1328-59insTGGTAAGGT... | |
| NR_134480.2:n.1407-60_1407-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_134481.2:n.1332-60_1332-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_134482.2:n.1267-60_1267-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157168.2:n.1381-60_1381-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157169.2:n.1241-60_1241-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157170.2:n.1407-60_1407-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157171.2:n.1264-60_1264-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157172.2:n.1178-60_1178-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157173.2:n.1418-60_1418-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157174.2:n.1419-60_1419-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157175.2:n.1573-60_1573-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157176.2:n.1736-60_1736-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157177.2:n.1416-60_1416-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_157178.2:n.1444-60_1444-59insTGGTAAGGTTTTTTTTAGTATTTGTGAATTAATATTTTTTTTTTTTTTTTTTTTTTT |