Linked Data
dbSNP Id:
rs796071541
MyVariant Identifiers:
chr19:g.18898681_18898682insTTTC (hg19)
chr19:g.18787872_18787873insTTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787873_18787874insTTCT , CM000681.2:g.18787873_18787874insTTCT | GRCh38 |
| NC_000019.9:g.18898682_18898683insTTCT , CM000681.1:g.18898682_18898683insTTCT | GRCh37 |
| NC_000019.8:g.18759682_18759683insTTCT | NCBI36 |
| NG_007070.1:g.8433_8434insGAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.976-223_976-222insGAAA MANE Select | ENSP00000222271.2:n.976-223_976-222insGAAA | |
| ENST00000222271.6:c.976-223_976-222insGAAA | ENSP00000222271.2:n.976-223_976-222insGAAA | |
| ENST00000425807.1:c.817-223_817-222insGAAA | ENSP00000403792.1:n.817-223_817-222insGAAA | |
| ENST00000542601.6:c.877-223_877-222insGAAA | ENSP00000439156.2:n.877-223_877-222insGAAA | |
| NM_000095.2:c.976-223_976-222insGAAA | NP_000086.2:n.976-223_976-222insGAAA | |
| NM_000095.3:c.976-223_976-222insGAAA MANE Select | NP_000086.2:n.976-223_976-222insGAAA |