Linked Data
gnomAD v3:
19-6710004-A-AGGGAGAGAGAGGGAGAGAGGGG
gnomAD v4:
19-6710004-A-AGGGAGAGAGAGGGAGAGAGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710025_6710026insGGGGAGAGAGAGGGAGAGAGGG , CM000681.2:g.6710025_6710026insGGGGAGAGAGAGGGAGAGAGGG | GRCh38 |
| NC_000019.9:g.6710036_6710037insGGGGAGAGAGAGGGAGAGAGGG , CM000681.1:g.6710036_6710037insGGGGAGAGAGAGGGAGAGAGGG | GRCh37 |
| NC_000019.8:g.6661036_6661037insGGGGAGAGAGAGGGAGAGAGGG | NCBI36 |
| NG_009557.1:g.15647_15648insCCCCTCTCTCCCTCTCTCTCCC , LRG_27:g.15647_15648insCCCCTCTCTCCCTCTCTCTCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-163_1564-162insCCCCTCTCTCCCTCTCTCTCCC | ENSP00000512083.1:n.1564-163_1564-162insCCCCTCTCTCCCTCTCTCTCC... | |
| ENST00000695654.1:c.811-163_811-162insCCCCTCTCTCCCTCTCTCTCCC | ENSP00000512085.1:n.811-163_811-162insCCCCTCTCTCCCTCTCTCTCCC | |
| ENST00000695655.1:c.592-127_592-126insCCCCTCTCTCCCTCTCTCTCCC | ENSP00000512086.1:n.592-127_592-126insCCCCTCTCTCCCTCTCTCTCCC | |
| ENST00000695692.1:n.1051-163_1051-162insCCCCTCTCTCCCTCTCTCTCCC | ||
| ENST00000245907.11:c.1687-163_1687-162insCCCCTCTCTCCCTCTCTCTCCC MANE Select | ENSP00000245907.4:n.1687-163_1687-162insCCCCTCTCTCCCTCTCTCTCC... | |
| ENST00000245907.10:c.1687-163_1687-162insCCCCTCTCTCCCTCTCTCTCCC | ENSP00000245907.4:n.1687-163_1687-162insCCCCTCTCTCCCTCTCTCTCC... | |
| ENST00000600763.1:n.320-163_320-162insCCCCTCTCTCCCTCTCTCTCCC | ||
| NM_000064.3:c.1687-163_1687-162insCCCCTCTCTCCCTCTCTCTCCC | NP_000055.2:n.1687-163_1687-162insCCCCTCTCTCCCTCTCTCTCCC | |
| NM_000064.4:c.1687-163_1687-162insCCCCTCTCTCCCTCTCTCTCCC MANE Select | NP_000055.2:n.1687-163_1687-162insCCCCTCTCTCCCTCTCTCTCCC |