Linked Data
gnomAD v3:
19-6709996-A-AGAGAGGGAGGGAGAGAGAGGGG
gnomAD v4:
19-6709996-A-AGAGAGGGAGGGAGAGAGAGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710017_6710018insGGAGAGGGAGGGAGAGAGAGGG , CM000681.2:g.6710017_6710018insGGAGAGGGAGGGAGAGAGAGGG | GRCh38 |
| NC_000019.9:g.6710028_6710029insGGAGAGGGAGGGAGAGAGAGGG , CM000681.1:g.6710028_6710029insGGAGAGGGAGGGAGAGAGAGGG | GRCh37 |
| NC_000019.8:g.6661028_6661029insGGAGAGGGAGGGAGAGAGAGGG | NCBI36 |
| NG_009557.1:g.15655_15656insCCCCTCTCTCTCCCTCCCTCTC , LRG_27:g.15655_15656insCCCCTCTCTCTCCCTCCCTCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-155_1564-154insCCCCTCTCTCTCCCTCCCTCTC | ENSP00000512083.1:n.1564-155_1564-154insCCCCTCTCTCTCCCTCCCTCT... | |
| ENST00000695654.1:c.811-155_811-154insCCCCTCTCTCTCCCTCCCTCTC | ENSP00000512085.1:n.811-155_811-154insCCCCTCTCTCTCCCTCCCTCTC | |
| ENST00000695655.1:c.592-119_592-118insCCCCTCTCTCTCCCTCCCTCTC | ENSP00000512086.1:n.592-119_592-118insCCCCTCTCTCTCCCTCCCTCTC | |
| ENST00000695692.1:n.1051-155_1051-154insCCCCTCTCTCTCCCTCCCTCTC | ||
| ENST00000245907.11:c.1687-155_1687-154insCCCCTCTCTCTCCCTCCCTCTC MANE Select | ENSP00000245907.4:n.1687-155_1687-154insCCCCTCTCTCTCCCTCCCTCT... | |
| ENST00000245907.10:c.1687-155_1687-154insCCCCTCTCTCTCCCTCCCTCTC | ENSP00000245907.4:n.1687-155_1687-154insCCCCTCTCTCTCCCTCCCTCT... | |
| ENST00000600763.1:n.320-155_320-154insCCCCTCTCTCTCCCTCCCTCTC | ||
| NM_000064.3:c.1687-155_1687-154insCCCCTCTCTCTCCCTCCCTCTC | NP_000055.2:n.1687-155_1687-154insCCCCTCTCTCTCCCTCCCTCTC | |
| NM_000064.4:c.1687-155_1687-154insCCCCTCTCTCTCCCTCCCTCTC MANE Select | NP_000055.2:n.1687-155_1687-154insCCCCTCTCTCTCCCTCCCTCTC |