Linked Data
ClinVar Variation Id:
143006
dbSNP Id:
rs587782888
gnomAD v2:
5-112175992-AGAT-A
gnomAD v3:
5-112840295-AGAT-A
gnomAD v4:
5-112840295-AGAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840305_112840307del , CM000667.2:g.112840305_112840307del | GRCh38 |
| NC_000005.9:g.112176002_112176004del , CM000667.1:g.112176002_112176004del | GRCh37 |
| NC_000005.8:g.112203901_112203903del | NCBI36 |
| NG_008481.4:g.152785_152787del , LRG_130:g.152785_152787del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4765_4767del | ENSP00000473355.2:p.Asp1589del | |
| ENST00000505350.2:c.*4717_*4719del | ENSP00000481752.1:n.*4717_*4719del | |
| ENST00000507379.6:c.4657_4659del | ENSP00000423224.2:p.Asp1553del | |
| ENST00000509732.6:c.4711_4713del | ENSP00000426541.2:p.Asp1571del | |
| ENST00000512211.7:c.4711_4713del | ENSP00000423828.3:p.Asp1571del | |
| ENST00000257430.9:c.4711_4713del MANE Select | ENSP00000257430.4:p.Asp1571del | |
| ENST00000257430.8:c.4711_4713del | ENSP00000257430.4:p.Asp1571del | |
| ENST00000508376.6:c.4711_4713del | ENSP00000427089.2:p.Asp1571del | |
| ENST00000508624.5:c.*4033_*4035del | ENSP00000424265.1:n.*4033_*4035del | |
| ENST00000520401.1:c.230+11333_230+11335del | ||
| NM_000038.5:c.4711_4713del | NP_000029.2:p.Asp1571del | |
| NM_001127510.2:c.4711_4713del | NP_001120982.1:p.Asp1571del | |
| NM_001127511.2:c.4657_4659del | NP_001120983.2:p.Asp1553del | |
| NM_001354895.1:c.4711_4713del | NP_001341824.1:p.Asp1571del | |
| NM_001354896.1:c.4765_4767del | NP_001341825.1:p.Asp1589del | |
| NM_001354897.1:c.4741_4743del | NP_001341826.1:p.Asp1581del | |
| NM_001354898.1:c.4636_4638del | NP_001341827.1:p.Asp1546del | |
| NM_001354899.1:c.4627_4629del | NP_001341828.1:p.Asp1543del | |
| NM_001354900.1:c.4588_4590del | NP_001341829.1:p.Asp1530del | |
| NM_001354901.1:c.4534_4536del | NP_001341830.1:p.Asp1512del | |
| NM_001354902.1:c.4438_4440del | NP_001341831.1:p.Asp1480del | |
| NM_001354903.1:c.4408_4410del | NP_001341832.1:p.Asp1470del | |
| NM_001354904.1:c.4333_4335del | NP_001341833.1:p.Asp1445del | |
| NM_001354905.1:c.4231_4233del | NP_001341834.1:p.Asp1411del | |
| NM_001354906.1:c.3862_3864del | NP_001341835.1:p.Asp1288del | |
| NM_000038.6:c.4711_4713del MANE Select | NP_000029.2:p.Asp1571del | |
| NM_001127510.3:c.4711_4713del | NP_001120982.1:p.Asp1571del | |
| NM_001127511.3:c.4657_4659del | NP_001120983.2:p.Asp1553del | |
| NM_001354895.2:c.4711_4713del | NP_001341824.1:p.Asp1571del | |
| NM_001354896.2:c.4765_4767del | NP_001341825.1:p.Asp1589del | |
| NM_001354897.2:c.4741_4743del | NP_001341826.1:p.Asp1581del | |
| NM_001354898.2:c.4636_4638del | NP_001341827.1:p.Asp1546del | |
| NM_001354899.2:c.4627_4629del | NP_001341828.1:p.Asp1543del | |
| NM_001354900.2:c.4588_4590del | NP_001341829.1:p.Asp1530del | |
| NM_001354901.2:c.4534_4536del | NP_001341830.1:p.Asp1512del | |
| NM_001354902.2:c.4438_4440del | NP_001341831.1:p.Asp1480del | |
| NM_001354903.2:c.4408_4410del | NP_001341832.1:p.Asp1470del | |
| NM_001354904.2:c.4333_4335del | NP_001341833.1:p.Asp1445del | |
| NM_001354905.2:c.4231_4233del | NP_001341834.1:p.Asp1411del | |
| NM_001354906.2:c.3862_3864del | NP_001341835.1:p.Asp1288del |