Linked Data
dbSNP Id:
rs775577764
ExAC:
15:89866702 T / TGA
gnomAD v2:
15-89866702-T-TGA
gnomAD v3:
15-89323471-T-TGA
gnomAD v4:
15-89323471-T-TGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323472_89323473dup , CM000677.2:g.89323472_89323473dup | GRCh38 |
| NC_000015.9:g.89866703_89866704dup , CM000677.1:g.89866703_89866704dup | GRCh37 |
| NC_000015.8:g.87667707_87667708dup | NCBI36 |
| NG_008218.1:g.16323_16324dup | |
| NG_008218.2:g.16323_16324dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2196_2197dup | ENSP00000516154.1:p.His733LeufsTer? | |
| ENST00000268124.11:c.2196_2197dup MANE Select | ENSP00000268124.5:p.His733LeufsTer? | |
| ENST00000530292.3:c.1797_1798dup | ENSP00000432885.2:p.His600LeufsTer? | |
| ENST00000635986.2:c.2196_2197dup | ENSP00000490653.2:p.His733LeufsTer? | |
| ENST00000636774.1:c.*763_*764dup | ENSP00000489799.1:n.*763_*764dup | |
| ENST00000637238.1:c.893_894dup | ENSP00000490756.1:n.893_894dup | |
| ENST00000637264.1:c.1268_1269dup | ||
| ENST00000666746.1:c.1773_1774dup | ||
| ENST00000670281.1:c.516_517dup | ENSP00000499709.1:p.His173LeufsTer? | |
| ENST00000672071.1:n.2394_2395dup | ||
| ENST00000672923.2:n.2299_2300dup | ||
| ENST00000268124.9:c.2196_2197dup | ENSP00000268124.5:p.His733LeufsTer? | |
| ENST00000442287.6:c.2196_2197dup | ENSP00000399851.2:p.His733LeufsTer? | |
| ENST00000526314.2:c.539+342_539+343dup | ||
| ENST00000526398.1:c.345_346dup | ||
| ENST00000532584.5:n.398_399dup | ||
| ENST00000631044.2:c.*1620_*1621dup | ENSP00000486730.1:n.*1620_*1621dup | |
| NM_001126131.1:c.2196_2197dup | NP_001119603.1:p.His733LeufsTer? | |
| NM_002693.2:c.2196_2197dup | NP_002684.1:p.His733LeufsTer? | |
| NM_001126131.2:c.2196_2197dup | NP_001119603.1:p.His733LeufsTer? | |
| NM_002693.3:c.2196_2197dup MANE Select | NP_002684.1:p.His733LeufsTer? |