Linked Data
ClinVar Variation Id:
1225048
ClinVar RCV Id:
RCV001608506
dbSNP Id:
rs146333943
ExAC:
19:1105839 TGGGGTG / T
gnomAD v2:
19-1105839-TGGGGTG-T
gnomAD v3:
19-1105840-TGGGGTG-T
gnomAD v4:
19-1105840-TGGGGTG-T
COSMIC:
COSN20060943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1105851_1105856del , CM000681.2:g.1105851_1105856del | GRCh38 |
| NC_000019.9:g.1105850_1105855del , CM000681.1:g.1105850_1105855del | GRCh37 |
| NC_000019.8:g.1056850_1056855del | NCBI36 |
| NG_050621.1:g.6926_6931del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.587+42_587+47del | ENSP00000473614.3:n.587+42_587+47del | |
| ENST00000593032.6:c.395+42_395+47del | ENSP00000465828.4:n.395+42_395+47del | |
| ENST00000706713.1:c.470+42_470+47del | ENSP00000516510.1:n.470+42_470+47del | |
| ENST00000706714.1:c.395+42_395+47del | ENSP00000516511.1:n.395+42_395+47del | |
| ENST00000706715.1:c.92+42_92+47del | ENSP00000516512.1:n.92+42_92+47del | |
| ENST00000354171.13:c.476+42_476+47del MANE Select | ENSP00000346103.7:n.476+42_476+47del | |
| ENST00000589115.6:c.476+42_476+47del | ENSP00000466872.3:n.476+42_476+47del | |
| ENST00000354171.12:c.476+42_476+47del | ENSP00000346103.7:n.476+42_476+47del | |
| ENST00000585480.1:c.209+42_209+47del | ENSP00000467900.1:n.209+42_209+47del | |
| ENST00000587648.5:c.356+42_356+47del | ENSP00000468349.1:n.356+42_356+47del | |
| ENST00000588919.5:c.395+42_395+47del | ENSP00000464989.3:n.395+42_395+47del | |
| ENST00000589115.5:c.476+42_476+47del | ENSP00000466872.2:n.476+42_476+47del | |
| ENST00000592940.2:n.457_462del | ||
| ENST00000593032.5:c.395+42_395+47del | ENSP00000465828.3:n.395+42_395+47del | |
| ENST00000611653.4:c.395+42_395+47del | ENSP00000483655.1:n.395+42_395+47del | |
| ENST00000616066.4:c.473+42_473+47del | ENSP00000485000.1:n.473+42_473+47del | |
| ENST00000622390.4:c.584+42_584+47del | ENSP00000477503.1:n.584+42_584+47del | |
| NM_001039847.2:c.476+42_476+47del | NP_001034936.1:n.476+42_476+47del | |
| NM_001039848.2:c.587+42_587+47del | NP_001034937.1:n.587+42_587+47del | |
| NM_002085.4:c.476+42_476+47del | NP_002076.2:n.476+42_476+47del | |
| NM_001039848.3:c.587+42_587+47del | NP_001034937.1:n.587+42_587+47del | |
| NM_001039847.3:c.476+42_476+47del | NP_001034936.1:n.476+42_476+47del | |
| NM_001039848.4:c.587+42_587+47del | NP_001034937.1:n.587+42_587+47del | |
| NM_001367832.1:c.395+42_395+47del | NP_001354761.1:n.395+42_395+47del | |
| NM_002085.5:c.476+42_476+47del MANE Select | NP_002076.2:n.476+42_476+47del |