Linked Data
dbSNP Id:
rs757416780
ExAC:
6:158535719 A / AG
gnomAD v2:
6-158535719-A-AG
gnomAD v4:
6-158114687-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114687_158114688insG , CM000668.2:g.158114687_158114688insG | GRCh38 |
| NC_000006.11:g.158535719_158535720insG , CM000668.1:g.158535719_158535720insG | GRCh37 |
| NC_000006.10:g.158455707_158455708insG | NCBI36 |
| NG_032889.1:g.58593_58594insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*1404+101_*1404+102insC | ENSP00000475855.1:n.*1404+101_*1404+102insC | |
| ENST00000642244.1:c.1594+101_1594+102insC | ENSP00000493554.1:n.1594+101_1594+102insC | |
| ENST00000642903.1:c.*21_*22insC | ENSP00000493559.1:n.*21_*22insC | |
| ENST00000644972.1:c.1684+101_1684+102insC | ENSP00000496451.1:n.1684+101_1684+102insC | |
| ENST00000645077.1:c.*1305+101_*1305+102insC | ENSP00000496113.1:n.*1305+101_*1305+102insC | |
| ENST00000645172.1:c.*1386+101_*1386+102insC | ENSP00000495367.1:n.*1386+101_*1386+102insC | |
| ENST00000646190.1:n.3015+101_3015+102insC | ||
| ENST00000646208.1:c.1420+101_1420+102insC | ENSP00000493723.1:n.1420+101_1420+102insC | |
| ENST00000646410.1:c.1555+101_1555+102insC | ENSP00000494205.1:n.1555+101_1555+102insC | |
| ENST00000646562.1:c.*1619_*1620insC | ENSP00000496087.1:n.*1619_*1620insC | |
| ENST00000647468.2:c.1684+101_1684+102insC MANE Select | ENSP00000496731.1:n.1684+101_1684+102insC | |
| ENST00000648111.1:c.*1372+101_*1372+102insC | ENSP00000497275.1:n.*1372+101_*1372+102insC | |
| ENST00000367104.7:c.1684+101_1684+102insC | ENSP00000356071.3:n.1684+101_1684+102insC | |
| ENST00000606965.5:c.*346_*347insC | ENSP00000475808.1:n.*346_*347insC | |
| ENST00000607071.5:c.*1618+101_*1618+102insC | ENSP00000475855.1:n.*1618+101_*1618+102insC | |
| ENST00000607742.5:c.*2962+101_*2962+102insC | ENSP00000475523.1:n.*2962+101_*2962+102insC | |
| NM_032861.3:c.1684+101_1684+102insC | NP_116250.3:n.1684+101_1684+102insC | |
| NR_073096.1:n.1718_1719insC | ||
| XM_006715586.1:c.1474+101_1474+102insC | XP_006715649.1:n.1474+101_1474+102insC | |
| XM_011536196.1:c.1663+101_1663+102insC | XP_011534498.1:n.1663+101_1663+102insC | |
| XM_011536197.1:c.1570+101_1570+102insC | XP_011534499.1:n.1570+101_1570+102insC | |
| XM_011536198.1:c.1474+101_1474+102insC | XP_011534500.1:n.1474+101_1474+102insC | |
| XM_006715586.3:c.1474+101_1474+102insC | XP_006715649.1:n.1474+101_1474+102insC | |
| XM_011536196.3:c.1663+101_1663+102insC | XP_011534498.1:n.1663+101_1663+102insC | |
| XM_011536198.3:c.1474+101_1474+102insC | XP_011534500.1:n.1474+101_1474+102insC | |
| XM_024446573.1:c.1684+101_1684+102insC | XP_024302341.1:n.1684+101_1684+102insC | |
| XR_001743697.2:n.1715+101_1715+102insC | ||
| XR_942606.2:n.1766+101_1766+102insC | ||
| NM_032861.4:c.1684+101_1684+102insC MANE Select | NP_116250.3:n.1684+101_1684+102insC | |
| NR_073096.2:n.1700_1701insC |