Linked Data
dbSNP Id:
rs772849508
ExAC:
2:25457188 T / TAA
gnomAD v2:
2-25457188-T-TAA
gnomAD v3:
2-25234319-T-TAA
gnomAD v4:
2-25234319-T-TAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25234319_25234320insAA , CM000664.2:g.25234319_25234320insAA | GRCh38 |
| NC_000002.11:g.25457188_25457189insAA , CM000664.1:g.25457188_25457189insAA | GRCh37 |
| NC_000002.10:g.25310692_25310693insAA | NCBI36 |
| NG_029465.2:g.113271_113272insTT , LRG_459:g.113271_113272insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474887.6:c.947_948insTT | ||
| ENST00000683393.1:c.1844_1845insTT | ENSP00000508654.1:n.1844_1845insTT | |
| ENST00000683760.1:c.2029_2030insTT | ENSP00000507765.1:p.His677LeufsTer7 | |
| ENST00000321117.10:c.2698_2699insTT MANE Select | ENSP00000324375.5:p.His900LeufsTer7 | |
| ENST00000264709.7:c.2698_2699insTT | ENSP00000264709.3:p.His900LeufsTer7 | |
| ENST00000321117.9:c.2698_2699insTT | ENSP00000324375.5:p.His900LeufsTer7 | |
| ENST00000380746.8:c.2131_2132insTT | ENSP00000370122.4:p.His711LeufsTer7 | |
| ENST00000380756.7:c.*551_*552insTT | ENSP00000370132.3:n.*551_*552insTT | |
| ENST00000402667.1:c.2029_2030insTT | ENSP00000384237.1:p.His677LeufsTer7 | |
| NM_022552.4:c.2698_2699insTT , LRG_459t1:c.2698_2699insTT | NP_072046.2:p.His900LeufsTer7 | |
| NM_153759.3:c.2131_2132insTT , LRG_459t2:c.2131_2132insTT | NP_715640.2:p.His711LeufsTer7 | |
| NM_175629.2:c.2698_2699insTT , LRG_459t4:c.2698_2699insTT | NP_783328.1:p.His900LeufsTer7 | |
| XM_005264175.3:c.2698_2699insTT | XP_005264232.1:p.His900LeufsTer7 | |
| XM_005264177.3:c.2029_2030insTT | XP_005264234.1:p.His677LeufsTer7 | |
| XM_006711958.2:c.2254_2255insTT | XP_006712021.1:p.His752LeufsTer7 | |
| XM_011532662.1:c.2551_2552insTT | XP_011530964.1:p.His851LeufsTer7 | |
| XM_011532663.1:c.2533_2534insTT | XP_011530965.1:p.His845LeufsTer7 | |
| XM_011532665.1:c.2242_2243insTT | XP_011530967.1:p.His748LeufsTer7 | |
| XM_011532666.1:c.2170_2171insTT | XP_011530968.1:p.His724LeufsTer7 | |
| XM_011532667.1:c.2029_2030insTT | XP_011530969.1:p.His677LeufsTer7 | |
| NM_001320893.1:c.2242_2243insTT | NP_001307822.1:p.His748LeufsTer7 | |
| NR_135490.1:n.3235_3236insTT | ||
| XM_005264175.5:c.2698_2699insTT | XP_005264232.1:p.His900LeufsTer7 | |
| XM_005264177.4:c.2029_2030insTT | XP_005264234.1:p.His677LeufsTer7 | |
| XM_011532662.2:c.2551_2552insTT | XP_011530964.1:p.His851LeufsTer7 | |
| XM_011532663.2:c.2533_2534insTT | XP_011530965.1:p.His845LeufsTer7 | |
| XM_011532666.2:c.2170_2171insTT | XP_011530968.1:p.His724LeufsTer7 | |
| XM_011532667.3:c.2029_2030insTT | XP_011530969.1:p.His677LeufsTer7 | |
| XM_017003526.1:c.2698_2699insTT | XP_016859015.1:p.His900LeufsTer7 | |
| XM_017003527.1:c.2029_2030insTT | XP_016859016.1:p.His677LeufsTer7 | |
| XR_001738657.1:n.2905_2906insTT | ||
| NM_001375819.1:c.2029_2030insTT | NP_001362748.1:p.His677LeufsTer7 | |
| NR_135490.2:n.3128_3129insTT | ||
| NM_022552.5:c.2698_2699insTT MANE Select | NP_072046.2:p.His900LeufsTer7 |