Linked Data
dbSNP Id:
rs6149881
gnomAD v2:
6-158535748-A-ATATAAAAT
gnomAD v3:
6-158114716-A-ATATAAAAT
gnomAD v4:
6-158114716-A-ATATAAAAT
MyVariant Identifiers:
chr6:g.158535748_158535749insTATAAAAT (hg19)
chr6:g.158114716_158114717insTATAAAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114716_158114717insTATAAAAT , CM000668.2:g.158114716_158114717insTATAAAAT | GRCh38 |
| NC_000006.11:g.158535748_158535749insTATAAAAT , CM000668.1:g.158535748_158535749insTATAAAAT | GRCh37 |
| NC_000006.10:g.158455736_158455737insTATAAAAT | NCBI36 |
| NG_032889.1:g.58564_58565insATTTTATA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*1404+72_*1404+73insATTTTATA | ENSP00000475855.1:n.*1404+72_*1404+73insATTTTATA | |
| ENST00000642244.1:c.1594+72_1594+73insATTTTATA | ENSP00000493554.1:n.1594+72_1594+73insATTTTATA | |
| ENST00000642903.1:c.1756_1757insATTTTATA | ENSP00000493559.1:p.Leu586HisfsTer30 | |
| ENST00000644972.1:c.1684+72_1684+73insATTTTATA | ENSP00000496451.1:n.1684+72_1684+73insATTTTATA | |
| ENST00000645077.1:c.*1305+72_*1305+73insATTTTATA | ENSP00000496113.1:n.*1305+72_*1305+73insATTTTATA | |
| ENST00000645172.1:c.*1386+72_*1386+73insATTTTATA | ENSP00000495367.1:n.*1386+72_*1386+73insATTTTATA | |
| ENST00000646190.1:n.3015+72_3015+73insATTTTATA | ||
| ENST00000646208.1:c.1420+72_1420+73insATTTTATA | ENSP00000493723.1:n.1420+72_1420+73insATTTTATA | |
| ENST00000646410.1:c.1555+72_1555+73insATTTTATA | ENSP00000494205.1:n.1555+72_1555+73insATTTTATA | |
| ENST00000646562.1:c.*1590_*1591insATTTTATA | ENSP00000496087.1:n.*1590_*1591insATTTTATA | |
| ENST00000647468.2:c.1684+72_1684+73insATTTTATA MANE Select | ENSP00000496731.1:n.1684+72_1684+73insATTTTATA | |
| ENST00000648111.1:c.*1372+72_*1372+73insATTTTATA | ENSP00000497275.1:n.*1372+72_*1372+73insATTTTATA | |
| ENST00000367104.7:c.1684+72_1684+73insATTTTATA | ENSP00000356071.3:n.1684+72_1684+73insATTTTATA | |
| ENST00000435180.5:c.481_482insATTTTATA | ENSP00000391168.1:p.Leu161HisfsTer? | |
| ENST00000606965.5:c.*317_*318insATTTTATA | ENSP00000475808.1:n.*317_*318insATTTTATA | |
| ENST00000607071.5:c.*1618+72_*1618+73insATTTTATA | ENSP00000475855.1:n.*1618+72_*1618+73insATTTTATA | |
| ENST00000607742.5:c.*2962+72_*2962+73insATTTTATA | ENSP00000475523.1:n.*2962+72_*2962+73insATTTTATA | |
| NM_032861.3:c.1684+72_1684+73insATTTTATA | NP_116250.3:n.1684+72_1684+73insATTTTATA | |
| NR_073096.1:n.1689_1690insATTTTATA | ||
| XM_006715586.1:c.1474+72_1474+73insATTTTATA | XP_006715649.1:n.1474+72_1474+73insATTTTATA | |
| XM_011536196.1:c.1663+72_1663+73insATTTTATA | XP_011534498.1:n.1663+72_1663+73insATTTTATA | |
| XM_011536197.1:c.1570+72_1570+73insATTTTATA | XP_011534499.1:n.1570+72_1570+73insATTTTATA | |
| XM_011536198.1:c.1474+72_1474+73insATTTTATA | XP_011534500.1:n.1474+72_1474+73insATTTTATA | |
| XM_006715586.3:c.1474+72_1474+73insATTTTATA | XP_006715649.1:n.1474+72_1474+73insATTTTATA | |
| XM_011536196.3:c.1663+72_1663+73insATTTTATA | XP_011534498.1:n.1663+72_1663+73insATTTTATA | |
| XM_011536198.3:c.1474+72_1474+73insATTTTATA | XP_011534500.1:n.1474+72_1474+73insATTTTATA | |
| XM_024446573.1:c.1684+72_1684+73insATTTTATA | XP_024302341.1:n.1684+72_1684+73insATTTTATA | |
| XR_001743697.2:n.1715+72_1715+73insATTTTATA | ||
| XR_942606.2:n.1766+72_1766+73insATTTTATA | ||
| NM_032861.4:c.1684+72_1684+73insATTTTATA MANE Select | NP_116250.3:n.1684+72_1684+73insATTTTATA | |
| NR_073096.2:n.1671_1672insATTTTATA |