Linked Data
dbSNP Id:
rs6149881
gnomAD v2:
6-158535748-A-ATATAAAATGAGATAATACATTCAAG
gnomAD v3:
6-158114716-A-ATATAAAATGAGATAATACATTCAAG
gnomAD v4:
6-158114716-A-ATATAAAATGAGATAATACATTCAAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114716_158114717insTATAAAATGAGATAATACATTCAAG , CM000668.2:g.158114716_158114717insTATAAAATGAGATAATACATTCAAG | GRCh38 |
| NC_000006.11:g.158535748_158535749insTATAAAATGAGATAATACATTCAAG , CM000668.1:g.158535748_158535749insTATAAAATGAGATAATACATTCAAG | GRCh37 |
| NC_000006.10:g.158455736_158455737insTATAAAATGAGATAATACATTCAAG | NCBI36 |
| NG_032889.1:g.58564_58565insCTTGAATGTATTATCTCATTTTATA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*1404+72_*1404+73insCTTGAATGTATTATCTCATTTTATA | ENSP00000475855.1:n.*1404+72_*1404+73insCTTGAATGTATTATCTCATTT... | |
| ENST00000642244.1:c.1594+72_1594+73insCTTGAATGTATTATCTCATTTTATA | ENSP00000493554.1:n.1594+72_1594+73insCTTGAATGTATTATCTCATTTTA... | |
| ENST00000642903.1:c.1756_1757insCTTGAATGTATTATCTCATTTTATA | ENSP00000493559.1:p.Leu586ProfsTer2 | |
| ENST00000644972.1:c.1684+72_1684+73insCTTGAATGTATTATCTCATTTTATA | ENSP00000496451.1:n.1684+72_1684+73insCTTGAATGTATTATCTCATTTTA... | |
| ENST00000645077.1:c.*1305+72_*1305+73insCTTGAATGTATTATCTCATTTTATA | ENSP00000496113.1:n.*1305+72_*1305+73insCTTGAATGTATTATCTCATTT... | |
| ENST00000645172.1:c.*1386+72_*1386+73insCTTGAATGTATTATCTCATTTTATA | ENSP00000495367.1:n.*1386+72_*1386+73insCTTGAATGTATTATCTCATTT... | |
| ENST00000646190.1:n.3015+72_3015+73insCTTGAATGTATTATCTCATTTTATA | ||
| ENST00000646208.1:c.1420+72_1420+73insCTTGAATGTATTATCTCATTTTATA | ENSP00000493723.1:n.1420+72_1420+73insCTTGAATGTATTATCTCATTTTA... | |
| ENST00000646410.1:c.1555+72_1555+73insCTTGAATGTATTATCTCATTTTATA | ENSP00000494205.1:n.1555+72_1555+73insCTTGAATGTATTATCTCATTTTA... | |
| ENST00000646562.1:c.*1590_*1591insCTTGAATGTATTATCTCATTTTATA | ENSP00000496087.1:n.*1590_*1591insCTTGAATGTATTATCTCATTTTATA | |
| ENST00000647468.2:c.1684+72_1684+73insCTTGAATGTATTATCTCATTTTATA MANE Select | ENSP00000496731.1:n.1684+72_1684+73insCTTGAATGTATTATCTCATTTTA... | |
| ENST00000648111.1:c.*1372+72_*1372+73insCTTGAATGTATTATCTCATTTTATA | ENSP00000497275.1:n.*1372+72_*1372+73insCTTGAATGTATTATCTCATTT... | |
| ENST00000367104.7:c.1684+72_1684+73insCTTGAATGTATTATCTCATTTTATA | ENSP00000356071.3:n.1684+72_1684+73insCTTGAATGTATTATCTCATTTTA... | |
| ENST00000435180.5:c.481_482insCTTGAATGTATTATCTCATTTTATA | ENSP00000391168.1:p.Leu161ProfsTer2 | |
| ENST00000606965.5:c.*317_*318insCTTGAATGTATTATCTCATTTTATA | ENSP00000475808.1:n.*317_*318insCTTGAATGTATTATCTCATTTTATA | |
| ENST00000607071.5:c.*1618+72_*1618+73insCTTGAATGTATTATCTCATTTTATA | ENSP00000475855.1:n.*1618+72_*1618+73insCTTGAATGTATTATCTCATTT... | |
| ENST00000607742.5:c.*2962+72_*2962+73insCTTGAATGTATTATCTCATTTTATA | ENSP00000475523.1:n.*2962+72_*2962+73insCTTGAATGTATTATCTCATTT... | |
| NM_032861.3:c.1684+72_1684+73insCTTGAATGTATTATCTCATTTTATA | NP_116250.3:n.1684+72_1684+73insCTTGAATGTATTATCTCATTTTATA | |
| NR_073096.1:n.1689_1690insCTTGAATGTATTATCTCATTTTATA | ||
| XM_006715586.1:c.1474+72_1474+73insCTTGAATGTATTATCTCATTTTATA | XP_006715649.1:n.1474+72_1474+73insCTTGAATGTATTATCTCATTTTATA | |
| XM_011536196.1:c.1663+72_1663+73insCTTGAATGTATTATCTCATTTTATA | XP_011534498.1:n.1663+72_1663+73insCTTGAATGTATTATCTCATTTTATA | |
| XM_011536197.1:c.1570+72_1570+73insCTTGAATGTATTATCTCATTTTATA | XP_011534499.1:n.1570+72_1570+73insCTTGAATGTATTATCTCATTTTATA | |
| XM_011536198.1:c.1474+72_1474+73insCTTGAATGTATTATCTCATTTTATA | XP_011534500.1:n.1474+72_1474+73insCTTGAATGTATTATCTCATTTTATA | |
| XM_006715586.3:c.1474+72_1474+73insCTTGAATGTATTATCTCATTTTATA | XP_006715649.1:n.1474+72_1474+73insCTTGAATGTATTATCTCATTTTATA | |
| XM_011536196.3:c.1663+72_1663+73insCTTGAATGTATTATCTCATTTTATA | XP_011534498.1:n.1663+72_1663+73insCTTGAATGTATTATCTCATTTTATA | |
| XM_011536198.3:c.1474+72_1474+73insCTTGAATGTATTATCTCATTTTATA | XP_011534500.1:n.1474+72_1474+73insCTTGAATGTATTATCTCATTTTATA | |
| XM_024446573.1:c.1684+72_1684+73insCTTGAATGTATTATCTCATTTTATA | XP_024302341.1:n.1684+72_1684+73insCTTGAATGTATTATCTCATTTTATA | |
| XR_001743697.2:n.1715+72_1715+73insCTTGAATGTATTATCTCATTTTATA | ||
| XR_942606.2:n.1766+72_1766+73insCTTGAATGTATTATCTCATTTTATA | ||
| NM_032861.4:c.1684+72_1684+73insCTTGAATGTATTATCTCATTTTATA MANE Select | NP_116250.3:n.1684+72_1684+73insCTTGAATGTATTATCTCATTTTATA | |
| NR_073096.2:n.1671_1672insCTTGAATGTATTATCTCATTTTATA |