Linked Data
dbSNP Id:
rs1568224484
gnomAD v3:
19-6709991-A-AAGGGAGAGAGGGAGGGAGAGGG
gnomAD v4:
19-6709991-A-AAGGGAGAGAGGGAGGGAGAGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710011_6710012insGGAGGGAGAGAGGGAGGGAGAG , CM000681.2:g.6710011_6710012insGGAGGGAGAGAGGGAGGGAGAG | GRCh38 |
| NC_000019.9:g.6710022_6710023insGGAGGGAGAGAGGGAGGGAGAG , CM000681.1:g.6710022_6710023insGGAGGGAGAGAGGGAGGGAGAG | GRCh37 |
| NC_000019.8:g.6661022_6661023insGGAGGGAGAGAGGGAGGGAGAG | NCBI36 |
| NG_009557.1:g.15660_15661insCCCTCTCCCTCCCTCTCTCCCT , LRG_27:g.15660_15661insCCCTCTCCCTCCCTCTCTCCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-150_1564-149insCCCTCTCCCTCCCTCTCTCCCT | ENSP00000512083.1:n.1564-150_1564-149insCCCTCTCCCTCCCTCTCTCCC... | |
| ENST00000695654.1:c.811-150_811-149insCCCTCTCCCTCCCTCTCTCCCT | ENSP00000512085.1:n.811-150_811-149insCCCTCTCCCTCCCTCTCTCCCT | |
| ENST00000695655.1:c.592-114_592-113insCCCTCTCCCTCCCTCTCTCCCT | ENSP00000512086.1:n.592-114_592-113insCCCTCTCCCTCCCTCTCTCCCT | |
| ENST00000695692.1:n.1051-150_1051-149insCCCTCTCCCTCCCTCTCTCCCT | ||
| ENST00000245907.11:c.1687-150_1687-149insCCCTCTCCCTCCCTCTCTCCCT MANE Select | ENSP00000245907.4:n.1687-150_1687-149insCCCTCTCCCTCCCTCTCTCCC... | |
| ENST00000245907.10:c.1687-150_1687-149insCCCTCTCCCTCCCTCTCTCCCT | ENSP00000245907.4:n.1687-150_1687-149insCCCTCTCCCTCCCTCTCTCCC... | |
| ENST00000600763.1:n.320-150_320-149insCCCTCTCCCTCCCTCTCTCCCT | ||
| NM_000064.3:c.1687-150_1687-149insCCCTCTCCCTCCCTCTCTCCCT | NP_000055.2:n.1687-150_1687-149insCCCTCTCCCTCCCTCTCTCCCT | |
| NM_000064.4:c.1687-150_1687-149insCCCTCTCCCTCCCTCTCTCCCT MANE Select | NP_000055.2:n.1687-150_1687-149insCCCTCTCCCTCCCTCTCTCCCT |