Linked Data
dbSNP Id:
rs2055181084
gnomAD v2:
19-18898711-C-CTTTA
gnomAD v3:
19-18787902-C-CTTTA
gnomAD v4:
19-18787902-C-CTTTA
MyVariant Identifiers:
chr19:g.18898711_18898712insTTTA (hg19)
chr19:g.18787902_18787903insTTTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787905_18787906insATTT , CM000681.2:g.18787905_18787906insATTT | GRCh38 |
| NC_000019.9:g.18898714_18898715insATTT , CM000681.1:g.18898714_18898715insATTT | GRCh37 |
| NC_000019.8:g.18759714_18759715insATTT | NCBI36 |
| NG_007070.1:g.8403_8404insTAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.976-253_976-252insTAAA MANE Select | ENSP00000222271.2:n.976-253_976-252insTAAA | |
| ENST00000222271.6:c.976-253_976-252insTAAA | ENSP00000222271.2:n.976-253_976-252insTAAA | |
| ENST00000425807.1:c.817-253_817-252insTAAA | ENSP00000403792.1:n.817-253_817-252insTAAA | |
| ENST00000542601.6:c.877-253_877-252insTAAA | ENSP00000439156.2:n.877-253_877-252insTAAA | |
| NM_000095.2:c.976-253_976-252insTAAA | NP_000086.2:n.976-253_976-252insTAAA | |
| NM_000095.3:c.976-253_976-252insTAAA MANE Select | NP_000086.2:n.976-253_976-252insTAAA |