Linked Data
ClinVar Variation Id:
420629
dbSNP Id:
rs763130915
ExAC:
2:228563925 TACG / T
gnomAD v2:
2-228563925-TACG-T
gnomAD v3:
2-227699209-TACG-T
gnomAD v4:
2-227699209-TACG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227699212_227699214del , CM000664.2:g.227699212_227699214del | GRCh38 |
| NC_000002.11:g.228563928_228563930del , CM000664.1:g.228563928_228563930del | GRCh37 |
| NC_000002.10:g.228272172_228272174del | NCBI36 |
| NG_016359.1:g.23818_23820del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258403.8:c.503_505del | ENSP00000258403.3:p.Ser168del | |
| ENST00000425817.6:c.*528_*530del | ENSP00000397393.2:n.*528_*530del | |
| ENST00000431622.6:c.*528_*530del | ENSP00000400627.1:n.*528_*530del | |
| ENST00000456524.6:c.680_682del | ENSP00000399001.2:p.Ser227del | |
| ENST00000642268.1:n.693_695del | ||
| ENST00000644224.2:c.503_505del MANE Select | ENSP00000495385.1:p.Ser168del | |
| ENST00000645700.1:c.151-366_151-364del | ENSP00000495372.1:n.151-366_151-364del | |
| ENST00000645923.1:c.188_190del | ENSP00000495010.1:p.Ser63del | |
| ENST00000646591.1:c.539_541del | ENSP00000496701.1:p.Ser180del | |
| ENST00000647113.1:c.150+2957_150+2959del | ENSP00000494966.1:n.150+2957_150+2959del | |
| ENST00000676066.1:n.233_235del | ||
| ENST00000258403.7:c.503_505del | ENSP00000258403.3:p.Ser168del | |
| ENST00000409287.5:c.259+244_259+246del | ENSP00000386298.1:n.259+244_259+246del | |
| ENST00000425817.5:c.503_505del | ENSP00000397393.1:p.Ser168del | |
| NM_025243.3:c.503_505del | NP_079519.1:p.Ser168del | |
| XM_005246874.2:c.491_493del | XP_005246931.1:p.Ser164del | |
| XM_006712779.2:c.518_520del | XP_006712842.1:p.Ser173del | |
| XM_011511931.1:c.539_541del | XP_011510233.1:p.Ser180del | |
| XM_011511932.1:c.503_505del | XP_011510234.1:p.Ser168del | |
| XM_011511933.1:c.503_505del | XP_011510235.1:p.Ser168del | |
| XM_005246874.3:c.491_493del | XP_005246931.1:p.Ser164del | |
| XM_011511931.2:c.539_541del | XP_011510233.1:p.Ser180del | |
| XM_017005030.1:c.743_745del | XP_016860519.1:p.Ser248del | |
| XM_017005031.1:c.722_724del | XP_016860520.1:p.Ser241del | |
| XM_017005032.1:c.707_709del | XP_016860521.1:p.Ser236del | |
| XM_017005033.1:c.707_709del | XP_016860522.1:p.Ser236del | |
| XM_017005034.2:c.707_709del | XP_016860523.1:p.Ser236del | |
| NM_025243.4:c.503_505del MANE Select | NP_079519.1:p.Ser168del | |
| NM_001371411.1:c.503_505del | NP_001358340.1:p.Ser168del | |
| NM_001371412.1:c.503_505del | NP_001358341.1:p.Ser168del | |
| NM_001371413.1:c.491_493del | NP_001358342.1:p.Ser164del | |
| NM_001371414.1:c.491_493del | NP_001358343.1:p.Ser164del |