Linked Data
gnomAD v3:
19-6710022-A-AGGGAGGGAGAGAGAGGGAGAGG
gnomAD v4:
19-6710022-A-AGGGAGGGAGAGAGAGGGAGAGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710025_6710026insAGGGAGAGAGAGGGAGAGGGGG , CM000681.2:g.6710025_6710026insAGGGAGAGAGAGGGAGAGGGGG | GRCh38 |
| NC_000019.9:g.6710036_6710037insAGGGAGAGAGAGGGAGAGGGGG , CM000681.1:g.6710036_6710037insAGGGAGAGAGAGGGAGAGGGGG | GRCh37 |
| NC_000019.8:g.6661036_6661037insAGGGAGAGAGAGGGAGAGGGGG | NCBI36 |
| NG_009557.1:g.15629_15630insCCTCTCCCTCTCTCTCCCTCCC , LRG_27:g.15629_15630insCCTCTCCCTCTCTCTCCCTCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-181_1564-180insCCTCTCCCTCTCTCTCCCTCCC | ENSP00000512083.1:n.1564-181_1564-180insCCTCTCCCTCTCTCTCCCTCC... | |
| ENST00000695654.1:c.811-181_811-180insCCTCTCCCTCTCTCTCCCTCCC | ENSP00000512085.1:n.811-181_811-180insCCTCTCCCTCTCTCTCCCTCCC | |
| ENST00000695655.1:c.592-145_592-144insCCTCTCCCTCTCTCTCCCTCCC | ENSP00000512086.1:n.592-145_592-144insCCTCTCCCTCTCTCTCCCTCCC | |
| ENST00000695692.1:n.1051-181_1051-180insCCTCTCCCTCTCTCTCCCTCCC | ||
| ENST00000245907.11:c.1687-181_1687-180insCCTCTCCCTCTCTCTCCCTCCC MANE Select | ENSP00000245907.4:n.1687-181_1687-180insCCTCTCCCTCTCTCTCCCTCC... | |
| ENST00000245907.10:c.1687-181_1687-180insCCTCTCCCTCTCTCTCCCTCCC | ENSP00000245907.4:n.1687-181_1687-180insCCTCTCCCTCTCTCTCCCTCC... | |
| ENST00000600763.1:n.320-181_320-180insCCTCTCCCTCTCTCTCCCTCCC | ||
| NM_000064.3:c.1687-181_1687-180insCCTCTCCCTCTCTCTCCCTCCC | NP_000055.2:n.1687-181_1687-180insCCTCTCCCTCTCTCTCCCTCCC | |
| NM_000064.4:c.1687-181_1687-180insCCTCTCCCTCTCTCTCCCTCCC MANE Select | NP_000055.2:n.1687-181_1687-180insCCTCTCCCTCTCTCTCCCTCCC |