Linked Data
dbSNP Id:
rs758405974
gnomAD v2:
6-158535747-A-AATATAAAATG
gnomAD v4:
6-158114715-A-AATATAAAATG
MyVariant Identifiers:
chr6:g.158535747_158535748insATATAAAATG (hg19)
chr6:g.158114715_158114716insATATAAAATG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114716_158114717insTATAAAATGA , CM000668.2:g.158114716_158114717insTATAAAATGA | GRCh38 |
| NC_000006.11:g.158535748_158535749insTATAAAATGA , CM000668.1:g.158535748_158535749insTATAAAATGA | GRCh37 |
| NC_000006.10:g.158455736_158455737insTATAAAATGA | NCBI36 |
| NG_032889.1:g.58565_58566insCATTTTATAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*1404+73_*1404+74insCATTTTATAT | ENSP00000475855.1:n.*1404+73_*1404+74insCATTTTATAT | |
| ENST00000642244.1:c.1594+73_1594+74insCATTTTATAT | ENSP00000493554.1:n.1594+73_1594+74insCATTTTATAT | |
| ENST00000642903.1:c.1757_1758insCATTTTATAT | ENSP00000493559.1:p.Pro587IlefsTer16 | |
| ENST00000644972.1:c.1684+73_1684+74insCATTTTATAT | ENSP00000496451.1:n.1684+73_1684+74insCATTTTATAT | |
| ENST00000645077.1:c.*1305+73_*1305+74insCATTTTATAT | ENSP00000496113.1:n.*1305+73_*1305+74insCATTTTATAT | |
| ENST00000645172.1:c.*1386+73_*1386+74insCATTTTATAT | ENSP00000495367.1:n.*1386+73_*1386+74insCATTTTATAT | |
| ENST00000646190.1:n.3015+73_3015+74insCATTTTATAT | ||
| ENST00000646208.1:c.1420+73_1420+74insCATTTTATAT | ENSP00000493723.1:n.1420+73_1420+74insCATTTTATAT | |
| ENST00000646410.1:c.1555+73_1555+74insCATTTTATAT | ENSP00000494205.1:n.1555+73_1555+74insCATTTTATAT | |
| ENST00000646562.1:c.*1591_*1592insCATTTTATAT | ENSP00000496087.1:n.*1591_*1592insCATTTTATAT | |
| ENST00000647468.2:c.1684+73_1684+74insCATTTTATAT MANE Select | ENSP00000496731.1:n.1684+73_1684+74insCATTTTATAT | |
| ENST00000648111.1:c.*1372+73_*1372+74insCATTTTATAT | ENSP00000497275.1:n.*1372+73_*1372+74insCATTTTATAT | |
| ENST00000367104.7:c.1684+73_1684+74insCATTTTATAT | ENSP00000356071.3:n.1684+73_1684+74insCATTTTATAT | |
| ENST00000435180.5:c.482_483insCATTTTATAT | ENSP00000391168.1:p.Pro162IlefsTer? | |
| ENST00000606965.5:c.*318_*319insCATTTTATAT | ENSP00000475808.1:n.*318_*319insCATTTTATAT | |
| ENST00000607071.5:c.*1618+73_*1618+74insCATTTTATAT | ENSP00000475855.1:n.*1618+73_*1618+74insCATTTTATAT | |
| ENST00000607742.5:c.*2962+73_*2962+74insCATTTTATAT | ENSP00000475523.1:n.*2962+73_*2962+74insCATTTTATAT | |
| NM_032861.3:c.1684+73_1684+74insCATTTTATAT | NP_116250.3:n.1684+73_1684+74insCATTTTATAT | |
| NR_073096.1:n.1690_1691insCATTTTATAT | ||
| XM_006715586.1:c.1474+73_1474+74insCATTTTATAT | XP_006715649.1:n.1474+73_1474+74insCATTTTATAT | |
| XM_011536196.1:c.1663+73_1663+74insCATTTTATAT | XP_011534498.1:n.1663+73_1663+74insCATTTTATAT | |
| XM_011536197.1:c.1570+73_1570+74insCATTTTATAT | XP_011534499.1:n.1570+73_1570+74insCATTTTATAT | |
| XM_011536198.1:c.1474+73_1474+74insCATTTTATAT | XP_011534500.1:n.1474+73_1474+74insCATTTTATAT | |
| XM_006715586.3:c.1474+73_1474+74insCATTTTATAT | XP_006715649.1:n.1474+73_1474+74insCATTTTATAT | |
| XM_011536196.3:c.1663+73_1663+74insCATTTTATAT | XP_011534498.1:n.1663+73_1663+74insCATTTTATAT | |
| XM_011536198.3:c.1474+73_1474+74insCATTTTATAT | XP_011534500.1:n.1474+73_1474+74insCATTTTATAT | |
| XM_024446573.1:c.1684+73_1684+74insCATTTTATAT | XP_024302341.1:n.1684+73_1684+74insCATTTTATAT | |
| XR_001743697.2:n.1715+73_1715+74insCATTTTATAT | ||
| XR_942606.2:n.1766+73_1766+74insCATTTTATAT | ||
| NM_032861.4:c.1684+73_1684+74insCATTTTATAT MANE Select | NP_116250.3:n.1684+73_1684+74insCATTTTATAT | |
| NR_073096.2:n.1672_1673insCATTTTATAT |