Linked Data
gnomAD v3:
19-6710014-A-AGGGAGAGAGGGAGGGAGGGAGG
gnomAD v4:
19-6710014-A-AGGGAGAGAGGGAGGGAGGGAGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710025_6710026insAGGGAGGGAGGGGGAGAGAGGG , CM000681.2:g.6710025_6710026insAGGGAGGGAGGGGGAGAGAGGG | GRCh38 |
| NC_000019.9:g.6710036_6710037insAGGGAGGGAGGGGGAGAGAGGG , CM000681.1:g.6710036_6710037insAGGGAGGGAGGGGGAGAGAGGG | GRCh37 |
| NC_000019.8:g.6661036_6661037insAGGGAGGGAGGGGGAGAGAGGG | NCBI36 |
| NG_009557.1:g.15637_15638insCCTCCCTCCCTCCCTCTCTCCC , LRG_27:g.15637_15638insCCTCCCTCCCTCCCTCTCTCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-173_1564-172insCCTCCCTCCCTCCCTCTCTCCC | ENSP00000512083.1:n.1564-173_1564-172insCCTCCCTCCCTCCCTCTCTCC... | |
| ENST00000695654.1:c.811-173_811-172insCCTCCCTCCCTCCCTCTCTCCC | ENSP00000512085.1:n.811-173_811-172insCCTCCCTCCCTCCCTCTCTCCC | |
| ENST00000695655.1:c.592-137_592-136insCCTCCCTCCCTCCCTCTCTCCC | ENSP00000512086.1:n.592-137_592-136insCCTCCCTCCCTCCCTCTCTCCC | |
| ENST00000695692.1:n.1051-173_1051-172insCCTCCCTCCCTCCCTCTCTCCC | ||
| ENST00000245907.11:c.1687-173_1687-172insCCTCCCTCCCTCCCTCTCTCCC MANE Select | ENSP00000245907.4:n.1687-173_1687-172insCCTCCCTCCCTCCCTCTCTCC... | |
| ENST00000245907.10:c.1687-173_1687-172insCCTCCCTCCCTCCCTCTCTCCC | ENSP00000245907.4:n.1687-173_1687-172insCCTCCCTCCCTCCCTCTCTCC... | |
| ENST00000600763.1:n.320-173_320-172insCCTCCCTCCCTCCCTCTCTCCC | ||
| NM_000064.3:c.1687-173_1687-172insCCTCCCTCCCTCCCTCTCTCCC | NP_000055.2:n.1687-173_1687-172insCCTCCCTCCCTCCCTCTCTCCC | |
| NM_000064.4:c.1687-173_1687-172insCCTCCCTCCCTCCCTCTCTCCC MANE Select | NP_000055.2:n.1687-173_1687-172insCCTCCCTCCCTCCCTCTCTCCC |