Linked Data
dbSNP Id:
rs1327607431
gnomAD v2:
15-78894332-C-CATTAAAAAA
gnomAD v3:
15-78601990-C-CATTAAAAAA
gnomAD v4:
15-78601990-C-CATTAAAAAA
MyVariant Identifiers:
chr15:g.78894332_78894333insATTAAAAAA (hg19)
chr15:g.78601990_78601991insATTAAAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78601990_78601991insATTAAAAAA , CM000677.2:g.78601990_78601991insATTAAAAAA | GRCh38 |
| NC_000015.9:g.78894332_78894333insATTAAAAAA , CM000677.1:g.78894332_78894333insATTAAAAAA | GRCh37 |
| NC_000015.8:g.76681387_76681388insATTAAAAAA | NCBI36 |
| NG_016143.1:g.24305_24306insTTTTTTAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326828.6:c.651_652insTTTTTTAAT MANE Select | ENSP00000315602.5:p.His217_Asp218insPhePheAsn | |
| ENST00000326828.5:c.651_652insTTTTTTAAT | ENSP00000315602.5:p.His217_Asp218insPhePheAsn | |
| ENST00000348639.7:c.651_652insTTTTTTAAT | ENSP00000267951.4:p.His217_Asp218insPhePheAsn | |
| ENST00000558903.1:n.358_359insTTTTTTAAT | ||
| ENST00000559658.5:c.651_652insTTTTTTAAT | ENSP00000452896.1:p.His217_Asp218insPhePheAsn | |
| NM_000743.4:c.651_652insTTTTTTAAT | NP_000734.2:p.His217_Asp218insPhePheAsn | |
| NM_001166694.1:c.651_652insTTTTTTAAT | NP_001160166.1:p.His217_Asp218insPhePheAsn | |
| NR_046313.1:n.1152_1153insTTTTTTAAT | ||
| XM_006720382.1:c.450_451insTTTTTTAAT | XP_006720445.1:p.His150_Asp151insPhePheAsn | |
| XM_011521173.1:c.570_571insTTTTTTAAT | XP_011519475.1:p.His190_Asp191insPhePheAsn | |
| XM_006720382.3:c.450_451insTTTTTTAAT | XP_006720445.1:p.His150_Asp151insPhePheAsn | |
| NM_000743.5:c.651_652insTTTTTTAAT MANE Select | NP_000734.2:p.His217_Asp218insPhePheAsn | |
| NM_001166694.2:c.651_652insTTTTTTAAT | NP_001160166.1:p.His217_Asp218insPhePheAsn | |
| NR_046313.2:n.853_854insTTTTTTAAT |