Linked Data
ClinVar Variation Id:
1214073
ClinVar RCV Id:
RCV001580834
dbSNP Id:
rs570922106
gnomAD v2:
6-158535729-G-GAGATAATACATTCAAGGAATATAAAATA
gnomAD v3:
6-158114697-G-GAGATAATACATTCAAGGAATATAAAATA
gnomAD v4:
6-158114697-G-GAGATAATACATTCAAGGAATATAAAATA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114716_158114717insTATAAAATAAGATAATACATTCAAGGAA , CM000668.2:g.158114716_158114717insTATAAAATAAGATAATACATTCAAGGAA | GRCh38 |
| NC_000006.11:g.158535748_158535749insTATAAAATAAGATAATACATTCAAGGAA , CM000668.1:g.158535748_158535749insTATAAAATAAGATAATACATTCAAGGAA | GRCh37 |
| NC_000006.10:g.158455736_158455737insTATAAAATAAGATAATACATTCAAGGAA | NCBI36 |
| NG_032889.1:g.58583_58584insTATTTTATATTCCTTGAATGTATTATCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*1404+91_*1404+92insTATTTTATATTCCTTGAATGTATTATCT | ENSP00000475855.1:n.*1404+91_*1404+92insTATTTTATATTCCTTGAATGT... | |
| ENST00000642244.1:c.1594+91_1594+92insTATTTTATATTCCTTGAATGTATTATCT | ENSP00000493554.1:n.1594+91_1594+92insTATTTTATATTCCTTGAATGTAT... | |
| ENST00000642903.1:c.*11_*12insTATTTTATATTCCTTGAATGTATTATCT | ENSP00000493559.1:n.*11_*12insTATTTTATATTCCTTGAATGTATTATCT | |
| ENST00000644972.1:c.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTATCT | ENSP00000496451.1:n.1684+91_1684+92insTATTTTATATTCCTTGAATGTAT... | |
| ENST00000645077.1:c.*1305+91_*1305+92insTATTTTATATTCCTTGAATGTATTATCT | ENSP00000496113.1:n.*1305+91_*1305+92insTATTTTATATTCCTTGAATGT... | |
| ENST00000645172.1:c.*1386+91_*1386+92insTATTTTATATTCCTTGAATGTATTATCT | ENSP00000495367.1:n.*1386+91_*1386+92insTATTTTATATTCCTTGAATGT... | |
| ENST00000646190.1:n.3015+91_3015+92insTATTTTATATTCCTTGAATGTATTATCT | ||
| ENST00000646208.1:c.1420+91_1420+92insTATTTTATATTCCTTGAATGTATTATCT | ENSP00000493723.1:n.1420+91_1420+92insTATTTTATATTCCTTGAATGTAT... | |
| ENST00000646410.1:c.1555+91_1555+92insTATTTTATATTCCTTGAATGTATTATCT | ENSP00000494205.1:n.1555+91_1555+92insTATTTTATATTCCTTGAATGTAT... | |
| ENST00000646562.1:c.*1609_*1610insTATTTTATATTCCTTGAATGTATTATCT | ENSP00000496087.1:n.*1609_*1610insTATTTTATATTCCTTGAATGTATTATC... | |
| ENST00000647468.2:c.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTATCT MANE Select | ENSP00000496731.1:n.1684+91_1684+92insTATTTTATATTCCTTGAATGTAT... | |
| ENST00000648111.1:c.*1372+91_*1372+92insTATTTTATATTCCTTGAATGTATTATCT | ENSP00000497275.1:n.*1372+91_*1372+92insTATTTTATATTCCTTGAATGT... | |
| ENST00000367104.7:c.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTATCT | ENSP00000356071.3:n.1684+91_1684+92insTATTTTATATTCCTTGAATGTAT... | |
| ENST00000435180.5:c.500_501insTATTTTATATTCCTTGAATGTATTATCT | ENSP00000391168.1:n.500_501insTATTTTATATTCCTTGAATGTATTATCT | |
| ENST00000606965.5:c.*336_*337insTATTTTATATTCCTTGAATGTATTATCT | ENSP00000475808.1:n.*336_*337insTATTTTATATTCCTTGAATGTATTATCT | |
| ENST00000607071.5:c.*1618+91_*1618+92insTATTTTATATTCCTTGAATGTATTATCT | ENSP00000475855.1:n.*1618+91_*1618+92insTATTTTATATTCCTTGAATGT... | |
| ENST00000607742.5:c.*2962+91_*2962+92insTATTTTATATTCCTTGAATGTATTATCT | ENSP00000475523.1:n.*2962+91_*2962+92insTATTTTATATTCCTTGAATGT... | |
| NM_032861.3:c.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTATCT | NP_116250.3:n.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTATCT | |
| NR_073096.1:n.1708_1709insTATTTTATATTCCTTGAATGTATTATCT | ||
| XM_006715586.1:c.1474+91_1474+92insTATTTTATATTCCTTGAATGTATTATCT | XP_006715649.1:n.1474+91_1474+92insTATTTTATATTCCTTGAATGTATTAT... | |
| XM_011536196.1:c.1663+91_1663+92insTATTTTATATTCCTTGAATGTATTATCT | XP_011534498.1:n.1663+91_1663+92insTATTTTATATTCCTTGAATGTATTAT... | |
| XM_011536197.1:c.1570+91_1570+92insTATTTTATATTCCTTGAATGTATTATCT | XP_011534499.1:n.1570+91_1570+92insTATTTTATATTCCTTGAATGTATTAT... | |
| XM_011536198.1:c.1474+91_1474+92insTATTTTATATTCCTTGAATGTATTATCT | XP_011534500.1:n.1474+91_1474+92insTATTTTATATTCCTTGAATGTATTAT... | |
| XM_006715586.3:c.1474+91_1474+92insTATTTTATATTCCTTGAATGTATTATCT | XP_006715649.1:n.1474+91_1474+92insTATTTTATATTCCTTGAATGTATTAT... | |
| XM_011536196.3:c.1663+91_1663+92insTATTTTATATTCCTTGAATGTATTATCT | XP_011534498.1:n.1663+91_1663+92insTATTTTATATTCCTTGAATGTATTAT... | |
| XM_011536198.3:c.1474+91_1474+92insTATTTTATATTCCTTGAATGTATTATCT | XP_011534500.1:n.1474+91_1474+92insTATTTTATATTCCTTGAATGTATTAT... | |
| XM_024446573.1:c.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTATCT | XP_024302341.1:n.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTAT... | |
| XR_001743697.2:n.1715+91_1715+92insTATTTTATATTCCTTGAATGTATTATCT | ||
| XR_942606.2:n.1766+91_1766+92insTATTTTATATTCCTTGAATGTATTATCT | ||
| NM_032861.4:c.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTATCT MANE Select | NP_116250.3:n.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTATCT | |
| NR_073096.2:n.1690_1691insTATTTTATATTCCTTGAATGTATTATCT |