Linked Data
dbSNP Id:
rs112830999
ExAC:
6:158535730 A / AGAT
gnomAD v2:
6-158535730-A-AGAT
gnomAD v3:
6-158114698-A-AGAT
gnomAD v4:
6-158114698-A-AGAT
MyVariant Identifiers:
chr6:g.158535730_158535731insGAT (hg19)
chr6:g.158114698_158114699insGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114699_158114701dup , CM000668.2:g.158114699_158114701dup | GRCh38 |
| NC_000006.11:g.158535731_158535733dup , CM000668.1:g.158535731_158535733dup | GRCh37 |
| NC_000006.10:g.158455719_158455721dup | NCBI36 |
| NG_032889.1:g.58580_58582dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*1404+88_*1404+90dup | ENSP00000475855.1:n.*1404+88_*1404+90dup | |
| ENST00000642244.1:c.1594+88_1594+90dup | ENSP00000493554.1:n.1594+88_1594+90dup | |
| ENST00000642903.1:c.*8_*10dup | ENSP00000493559.1:n.*8_*10dup | |
| ENST00000644972.1:c.1684+88_1684+90dup | ENSP00000496451.1:n.1684+88_1684+90dup | |
| ENST00000645077.1:c.*1305+88_*1305+90dup | ENSP00000496113.1:n.*1305+88_*1305+90dup | |
| ENST00000645172.1:c.*1386+88_*1386+90dup | ENSP00000495367.1:n.*1386+88_*1386+90dup | |
| ENST00000646190.1:n.3015+88_3015+90dup | ||
| ENST00000646208.1:c.1420+88_1420+90dup | ENSP00000493723.1:n.1420+88_1420+90dup | |
| ENST00000646410.1:c.1555+88_1555+90dup | ENSP00000494205.1:n.1555+88_1555+90dup | |
| ENST00000646562.1:c.*1606_*1608dup | ENSP00000496087.1:n.*1606_*1608dup | |
| ENST00000647468.2:c.1684+88_1684+90dup MANE Select | ENSP00000496731.1:n.1684+88_1684+90dup | |
| ENST00000648111.1:c.*1372+88_*1372+90dup | ENSP00000497275.1:n.*1372+88_*1372+90dup | |
| ENST00000367104.7:c.1684+88_1684+90dup | ENSP00000356071.3:n.1684+88_1684+90dup | |
| ENST00000435180.5:c.497_499dup | ENSP00000391168.1:n.497_499dup | |
| ENST00000606965.5:c.*333_*335dup | ENSP00000475808.1:n.*333_*335dup | |
| ENST00000607071.5:c.*1618+88_*1618+90dup | ENSP00000475855.1:n.*1618+88_*1618+90dup | |
| ENST00000607742.5:c.*2962+88_*2962+90dup | ENSP00000475523.1:n.*2962+88_*2962+90dup | |
| NM_032861.3:c.1684+88_1684+90dup | NP_116250.3:n.1684+88_1684+90dup | |
| NR_073096.1:n.1705_1707dup | ||
| XM_006715586.1:c.1474+88_1474+90dup | XP_006715649.1:n.1474+88_1474+90dup | |
| XM_011536196.1:c.1663+88_1663+90dup | XP_011534498.1:n.1663+88_1663+90dup | |
| XM_011536197.1:c.1570+88_1570+90dup | XP_011534499.1:n.1570+88_1570+90dup | |
| XM_011536198.1:c.1474+88_1474+90dup | XP_011534500.1:n.1474+88_1474+90dup | |
| XM_006715586.3:c.1474+88_1474+90dup | XP_006715649.1:n.1474+88_1474+90dup | |
| XM_011536196.3:c.1663+88_1663+90dup | XP_011534498.1:n.1663+88_1663+90dup | |
| XM_011536198.3:c.1474+88_1474+90dup | XP_011534500.1:n.1474+88_1474+90dup | |
| XM_024446573.1:c.1684+88_1684+90dup | XP_024302341.1:n.1684+88_1684+90dup | |
| XR_001743697.2:n.1715+88_1715+90dup | ||
| XR_942606.2:n.1766+88_1766+90dup | ||
| NM_032861.4:c.1684+88_1684+90dup MANE Select | NP_116250.3:n.1684+88_1684+90dup | |
| NR_073096.2:n.1687_1689dup |