Linked Data
ClinVar Variation Id:
405645
dbSNP Id:
rs1060500792
gnomAD v2:
12-133249754-TCG-T
gnomAD v3:
12-132673168-TCG-T
gnomAD v4:
12-132673168-TCG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132673169_132673170del , CM000674.2:g.132673169_132673170del | GRCh38 |
| NC_000012.11:g.133249755_133249756del , CM000674.1:g.133249755_133249756del | GRCh37 |
| NC_000012.10:g.131759828_131759829del | NCBI36 |
| NG_033840.1:g.19355_19356del , LRG_789:g.19355_19356del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539215.6:c.175_176del | ||
| ENST00000545015.2:n.1494_1495del | ||
| ENST00000699982.1:c.1321_1322del | ||
| ENST00000699983.1:c.1321_1322del | ||
| ENST00000699984.1:c.1321_1322del | ||
| ENST00000320574.10:c.1467_1468del MANE Select | ENSP00000322570.5:p.Asp490ArgfsTer12 | |
| ENST00000672742.1:c.*969_*970del | ENSP00000500279.1:n.*969_*970del | |
| ENST00000320574.9:c.1467_1468del | ENSP00000322570.5:p.Asp490ArgfsTer12 | |
| ENST00000535270.5:c.1386_1387del | ENSP00000445753.1:p.Asp463ArgfsTer12 | |
| ENST00000535934.2:n.1342_1343del | ||
| ENST00000537064.5:c.*514_*515del | ENSP00000442578.1:n.*514_*515del | |
| ENST00000539215.5:n.175_176del | ||
| ENST00000545015.1:n.64_65del | ||
| NM_006231.3:c.1467_1468del , LRG_789t1:c.1467_1468del | NP_006222.2:p.Asp490ArgfsTer12 | |
| XM_011534795.1:c.1467_1468del | XP_011533097.1:p.Asp490ArgfsTer12 | |
| XM_011534796.1:c.1338_1339del | XP_011533098.1:p.Asp447ArgfsTer12 | |
| XM_011534797.1:c.546_547del | XP_011533099.1:p.Asp183ArgfsTer12 | |
| XM_011534798.1:c.129_130del | XP_011533100.1:p.Asp44ArgfsTer12 | |
| XM_011534799.1:c.1467_1468del | XP_011533101.1:p.Asp490ArgfsTer12 | |
| XM_011534800.1:c.1467_1468del | XP_011533102.1:p.Asp490ArgfsTer12 | |
| XM_011534801.1:c.1467_1468del | XP_011533103.1:p.Asp490ArgfsTer12 | |
| XR_941395.1:n.1676_1677del | ||
| XM_011534795.3:c.1467_1468del | XP_011533097.1:p.Asp490ArgfsTer12 | |
| XM_011534797.3:c.546_547del | XP_011533099.1:p.Asp183ArgfsTer12 | |
| XM_011534799.2:c.1467_1468del | XP_011533101.1:p.Asp490ArgfsTer12 | |
| XR_002957338.1:n.1671_1672del | ||
| XR_002957339.1:n.1671_1672del | ||
| XR_941395.2:n.1671_1672del | ||
| NM_006231.4:c.1467_1468del MANE Select | NP_006222.2:p.Asp490ArgfsTer12 |