Linked Data
dbSNP Id:
rs1241680232
gnomAD v2:
12-105583519-AAAG-A
gnomAD v3:
12-105189741-AAAG-A
gnomAD v4:
12-105189741-AAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.105189744_105189746del , CM000674.2:g.105189744_105189746del | GRCh38 |
| NC_000012.11:g.105583522_105583524del , CM000674.1:g.105583522_105583524del | GRCh37 |
| NC_000012.10:g.104107652_104107654del | NCBI36 |
| NG_030419.1:g.51487_51489del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258530.8:c.1459+28_1459+30del MANE Select | ENSP00000258530.3:n.1459+28_1459+30del | |
| ENST00000258530.7:c.1459+28_1459+30del | ENSP00000258530.3:n.1459+28_1459+30del | |
| ENST00000539978.6:c.1330+28_1330+30del | ENSP00000444472.2:n.1330+28_1330+30del | |
| ENST00000547439.5:c.*744+28_*744+30del | ENSP00000449410.1:n.*744+28_*744+30del | |
| ENST00000547809.5:n.1469+28_1469+30del | ||
| ENST00000551662.5:c.1477+28_1477+30del | ENSP00000446917.1:n.1477+28_1477+30del | |
| ENST00000552945.1:n.299+28_299+30del | ||
| ENST00000553109.1:c.103+28_103+30del | ENSP00000446510.1:n.103+28_103+30del | |
| NM_001251904.1:c.1477+28_1477+30del | NP_001238833.1:n.1477+28_1477+30del | |
| NM_001251905.1:c.1330+28_1330+30del | NP_001238834.1:n.1330+28_1330+30del | |
| NM_018171.3:c.1459+28_1459+30del | NP_060641.2:n.1459+28_1459+30del | |
| XM_006719472.1:c.1477+28_1477+30del | XP_006719535.1:n.1477+28_1477+30del | |
| XM_011538530.1:c.1438+28_1438+30del | XP_011536832.1:n.1438+28_1438+30del | |
| XM_011538531.1:c.1348+28_1348+30del | XP_011536833.1:n.1348+28_1348+30del | |
| XM_011538532.1:c.1348+28_1348+30del | XP_011536834.1:n.1348+28_1348+30del | |
| XM_011538530.3:c.1438+28_1438+30del | XP_011536832.1:n.1438+28_1438+30del | |
| XM_011538531.3:c.1348+28_1348+30del | XP_011536833.1:n.1348+28_1348+30del | |
| XM_011538532.3:c.1348+28_1348+30del | XP_011536834.1:n.1348+28_1348+30del | |
| XM_017019551.2:c.1420+28_1420+30del | XP_016875040.1:n.1420+28_1420+30del | |
| XM_017019552.2:c.1330+28_1330+30del | XP_016875041.1:n.1330+28_1330+30del | |
| XM_017019553.2:c.1330+28_1330+30del | XP_016875042.1:n.1330+28_1330+30del | |
| XM_017019554.1:c.1459+28_1459+30del | XP_016875043.1:n.1459+28_1459+30del | |
| XR_001748795.1:n.1639+28_1639+30del | ||
| XR_001748796.1:n.1621+28_1621+30del | ||
| NM_018171.4:c.1459+28_1459+30del | NP_060641.2:n.1459+28_1459+30del | |
| NM_018171.5:c.1459+28_1459+30del MANE Select | NP_060641.2:n.1459+28_1459+30del | |
| NM_001251904.2:c.1477+28_1477+30del | NP_001238833.1:n.1477+28_1477+30del | |
| NM_001251905.2:c.1330+28_1330+30del | NP_001238834.1:n.1330+28_1330+30del |