Linked Data
gnomAD v3:
6-158114688-T-TTATAAAATGAGATAATACATTCAAAGAA
gnomAD v4:
6-158114688-T-TTATAAAATGAGATAATACATTCAAAGAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114712_158114713insAGAATATAAAATGAGATAATACATTCAA , CM000668.2:g.158114712_158114713insAGAATATAAAATGAGATAATACATTCAA | GRCh38 |
| NC_000006.11:g.158535744_158535745insAGAATATAAAATGAGATAATACATTCAA , CM000668.1:g.158535744_158535745insAGAATATAAAATGAGATAATACATTCAA | GRCh37 |
| NC_000006.10:g.158455732_158455733insAGAATATAAAATGAGATAATACATTCAA | NCBI36 |
| NG_032889.1:g.58592_58593insTTCTTTGAATGTATTATCTCATTTTATA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*1404+100_*1404+101insTTCTTTGAATGTATTATCTCATTTTATA | ENSP00000475855.1:n.*1404+100_*1404+101insTTCTTTGAATGTATTATCT... | |
| ENST00000642244.1:c.1594+100_1594+101insTTCTTTGAATGTATTATCTCATTTTATA | ENSP00000493554.1:n.1594+100_1594+101insTTCTTTGAATGTATTATCTCA... | |
| ENST00000642903.1:c.*20_*21insTTCTTTGAATGTATTATCTCATTTTATA | ENSP00000493559.1:n.*20_*21insTTCTTTGAATGTATTATCTCATTTTATA | |
| ENST00000644972.1:c.1684+100_1684+101insTTCTTTGAATGTATTATCTCATTTTATA | ENSP00000496451.1:n.1684+100_1684+101insTTCTTTGAATGTATTATCTCA... | |
| ENST00000645077.1:c.*1305+100_*1305+101insTTCTTTGAATGTATTATCTCATTTTATA | ENSP00000496113.1:n.*1305+100_*1305+101insTTCTTTGAATGTATTATCT... | |
| ENST00000645172.1:c.*1386+100_*1386+101insTTCTTTGAATGTATTATCTCATTTTATA | ENSP00000495367.1:n.*1386+100_*1386+101insTTCTTTGAATGTATTATCT... | |
| ENST00000646190.1:n.3015+100_3015+101insTTCTTTGAATGTATTATCTCATTTTATA | ||
| ENST00000646208.1:c.1420+100_1420+101insTTCTTTGAATGTATTATCTCATTTTATA | ENSP00000493723.1:n.1420+100_1420+101insTTCTTTGAATGTATTATCTCA... | |
| ENST00000646410.1:c.1555+100_1555+101insTTCTTTGAATGTATTATCTCATTTTATA | ENSP00000494205.1:n.1555+100_1555+101insTTCTTTGAATGTATTATCTCA... | |
| ENST00000646562.1:c.*1618_*1619insTTCTTTGAATGTATTATCTCATTTTATA | ENSP00000496087.1:n.*1618_*1619insTTCTTTGAATGTATTATCTCATTTTAT... | |
| ENST00000647468.2:c.1684+100_1684+101insTTCTTTGAATGTATTATCTCATTTTATA MANE Select | ENSP00000496731.1:n.1684+100_1684+101insTTCTTTGAATGTATTATCTCA... | |
| ENST00000648111.1:c.*1372+100_*1372+101insTTCTTTGAATGTATTATCTCATTTTATA | ENSP00000497275.1:n.*1372+100_*1372+101insTTCTTTGAATGTATTATCT... | |
| ENST00000367104.7:c.1684+100_1684+101insTTCTTTGAATGTATTATCTCATTTTATA | ENSP00000356071.3:n.1684+100_1684+101insTTCTTTGAATGTATTATCTCA... | |
| ENST00000606965.5:c.*345_*346insTTCTTTGAATGTATTATCTCATTTTATA | ENSP00000475808.1:n.*345_*346insTTCTTTGAATGTATTATCTCATTTTATA | |
| ENST00000607071.5:c.*1618+100_*1618+101insTTCTTTGAATGTATTATCTCATTTTATA | ENSP00000475855.1:n.*1618+100_*1618+101insTTCTTTGAATGTATTATCT... | |
| ENST00000607742.5:c.*2962+100_*2962+101insTTCTTTGAATGTATTATCTCATTTTATA | ENSP00000475523.1:n.*2962+100_*2962+101insTTCTTTGAATGTATTATCT... | |
| NM_032861.3:c.1684+100_1684+101insTTCTTTGAATGTATTATCTCATTTTATA | NP_116250.3:n.1684+100_1684+101insTTCTTTGAATGTATTATCTCATTTTAT... | |
| NR_073096.1:n.1717_1718insTTCTTTGAATGTATTATCTCATTTTATA | ||
| XM_006715586.1:c.1474+100_1474+101insTTCTTTGAATGTATTATCTCATTTTATA | XP_006715649.1:n.1474+100_1474+101insTTCTTTGAATGTATTATCTCATTT... | |
| XM_011536196.1:c.1663+100_1663+101insTTCTTTGAATGTATTATCTCATTTTATA | XP_011534498.1:n.1663+100_1663+101insTTCTTTGAATGTATTATCTCATTT... | |
| XM_011536197.1:c.1570+100_1570+101insTTCTTTGAATGTATTATCTCATTTTATA | XP_011534499.1:n.1570+100_1570+101insTTCTTTGAATGTATTATCTCATTT... | |
| XM_011536198.1:c.1474+100_1474+101insTTCTTTGAATGTATTATCTCATTTTATA | XP_011534500.1:n.1474+100_1474+101insTTCTTTGAATGTATTATCTCATTT... | |
| XM_006715586.3:c.1474+100_1474+101insTTCTTTGAATGTATTATCTCATTTTATA | XP_006715649.1:n.1474+100_1474+101insTTCTTTGAATGTATTATCTCATTT... | |
| XM_011536196.3:c.1663+100_1663+101insTTCTTTGAATGTATTATCTCATTTTATA | XP_011534498.1:n.1663+100_1663+101insTTCTTTGAATGTATTATCTCATTT... | |
| XM_011536198.3:c.1474+100_1474+101insTTCTTTGAATGTATTATCTCATTTTATA | XP_011534500.1:n.1474+100_1474+101insTTCTTTGAATGTATTATCTCATTT... | |
| XM_024446573.1:c.1684+100_1684+101insTTCTTTGAATGTATTATCTCATTTTATA | XP_024302341.1:n.1684+100_1684+101insTTCTTTGAATGTATTATCTCATTT... | |
| XR_001743697.2:n.1715+100_1715+101insTTCTTTGAATGTATTATCTCATTTTATA | ||
| XR_942606.2:n.1766+100_1766+101insTTCTTTGAATGTATTATCTCATTTTATA | ||
| NM_032861.4:c.1684+100_1684+101insTTCTTTGAATGTATTATCTCATTTTATA MANE Select | NP_116250.3:n.1684+100_1684+101insTTCTTTGAATGTATTATCTCATTTTAT... | |
| NR_073096.2:n.1699_1700insTTCTTTGAATGTATTATCTCATTTTATA |