UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108304720_108304735delinsTATATTTTACTCCAAA , CM000673.2:g.108304720_108304735delinsTATATTTTACTCCAAA | GRCh38 |
| NC_000011.9:g.108175447_108175462delinsTATATTTTACTCCAAA , CM000673.1:g.108175447_108175462delinsTATATTTTACTCCAAA | GRCh37 |
| NC_000011.8:g.107680657_107680672delinsTATATTTTACTCCAAA | NCBI36 |
| NG_009830.1:g.86889_86904delinsTATATTTTACTCCAAA , LRG_135:g.86889_86904delinsTATATTTTACTCCAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5542_5557delinsTATATTTTACTCCAAA | ENSP00000388058.2:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| ENST00000713593.1:c.*5013_*5028delinsTATATTTTACTCCAAA | ENSP00000518889.1:n.*5013_*5028delinsTATATTTTACTCCAAA | |
| ENST00000278616.9:c.5542_5557delinsTATATTTTACTCCAAA | ENSP00000278616.4:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| ENST00000683174.1:n.7026_7041delinsTATATTTTACTCCAAA | ||
| ENST00000683524.1:n.766_781delinsTATATTTTACTCCAAA | ||
| ENST00000684152.1:n.1256_1271delinsTATATTTTACTCCAAA | ||
| ENST00000527805.6:c.*606_*621delinsTATATTTTACTCCAAA | ENSP00000435747.2:n.*606_*621delinsTATATTTTACTCCAAA | |
| ENST00000675595.1:c.*606_*621delinsTATATTTTACTCCAAA | ENSP00000502563.1:n.*606_*621delinsTATATTTTACTCCAAA | |
| ENST00000675843.1:c.5542_5557delinsTATATTTTACTCCAAA MANE Select | ENSP00000501606.1:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| ENST00000278616.8:c.5542_5557delinsTATATTTTACTCCAAA | ENSP00000278616.4:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| ENST00000452508.6:c.5542_5557delinsTATATTTTACTCCAAA | ENSP00000388058.2:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| ENST00000524792.5:n.1757_1772delinsTATATTTTACTCCAAA | ||
| ENST00000529588.5:c.54_69delinsTATATTTTACTCCAAA | ||
| ENST00000533690.5:n.946_961delinsTATATTTTACTCCAAA | ||
| NM_000051.3:c.5542_5557delinsTATATTTTACTCCAAA , LRG_135t1:c.5542_5557delinsTATATTTTACTCCAAA | NP_000042.3:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| XM_005271561.3:c.5542_5557delinsTATATTTTACTCCAAA | XP_005271618.2:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| XM_005271562.3:c.5542_5557delinsTATATTTTACTCCAAA | XP_005271619.2:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| XM_006718843.2:c.5542_5557delinsTATATTTTACTCCAAA | XP_006718906.1:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| XM_006718845.1:c.1498_1513delinsTATATTTTACTCCAAA | XP_006718908.1:p.Asp500_Asp505delinsTyrIleLeuLeuGlnAsn | |
| XM_011542840.1:c.5542_5557delinsTATATTTTACTCCAAA | XP_011541142.1:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| XM_011542841.1:c.5542_5557delinsTATATTTTACTCCAAA | XP_011541143.1:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| XM_011542842.1:c.5377_5392delinsTATATTTTACTCCAAA | XP_011541144.1:p.Asp1793_Asp1798delinsTyrIleLeuLeuGlnAsn | |
| XM_011542843.1:c.5542_5557delinsTATATTTTACTCCAAA | XP_011541145.1:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| XM_011542844.1:c.4498_4513delinsTATATTTTACTCCAAA | XP_011541146.1:p.Asp1500_Asp1505delinsTyrIleLeuLeuGlnAsn | |
| XM_011542845.1:c.4234_4249delinsTATATTTTACTCCAAA | XP_011541147.1:p.Asp1412_Asp1417delinsTyrIleLeuLeuGlnAsn | |
| XM_011542847.1:c.613_628delinsTATATTTTACTCCAAA | XP_011541149.1:p.Asp205_Asp210delinsTyrIleLeuLeuGlnAsn | |
| NM_001351834.1:c.5542_5557delinsTATATTTTACTCCAAA | NP_001338763.1:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| XM_005271562.5:c.5542_5557delinsTATATTTTACTCCAAA | XP_005271619.2:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| XM_006718843.4:c.5542_5557delinsTATATTTTACTCCAAA | XP_006718906.1:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| XM_006718845.2:c.1498_1513delinsTATATTTTACTCCAAA | XP_006718908.1:p.Asp500_Asp505delinsTyrIleLeuLeuGlnAsn | |
| XM_011542840.3:c.5542_5557delinsTATATTTTACTCCAAA | XP_011541142.1:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| XM_011542842.3:c.5377_5392delinsTATATTTTACTCCAAA | XP_011541144.1:p.Asp1793_Asp1798delinsTyrIleLeuLeuGlnAsn | |
| XM_011542843.2:c.5542_5557delinsTATATTTTACTCCAAA | XP_011541145.1:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| XM_011542844.3:c.4498_4513delinsTATATTTTACTCCAAA | XP_011541146.1:p.Asp1500_Asp1505delinsTyrIleLeuLeuGlnAsn | |
| XM_011542845.2:c.4234_4249delinsTATATTTTACTCCAAA | XP_011541147.1:p.Asp1412_Asp1417delinsTyrIleLeuLeuGlnAsn | |
| XM_017017789.2:c.5542_5557delinsTATATTTTACTCCAAA | XP_016873278.1:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| XM_017017790.2:c.5542_5557delinsTATATTTTACTCCAAA | XP_016873279.1:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| XM_017017791.1:c.5542_5557delinsTATATTTTACTCCAAA | XP_016873280.1:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| XR_002957150.1:n.6142_6157delinsTATATTTTACTCCAAA | ||
| NM_001351834.2:c.5542_5557delinsTATATTTTACTCCAAA | NP_001338763.1:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn | |
| NM_000051.4:c.5542_5557delinsTATATTTTACTCCAAA MANE Select | NP_000042.3:p.Asp1848_Asp1853delinsTyrIleLeuLeuGlnAsn |