Linked Data
dbSNP Id:
rs1254914957
gnomAD v2:
19-18499413-AACGGGGACC-A
gnomAD v3:
19-18388603-AACGGGGACC-A
gnomAD v4:
19-18388603-AACGGGGACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18388606_18388614del , CM000681.2:g.18388606_18388614del | GRCh38 |
| NC_000019.9:g.18499416_18499424del , CM000681.1:g.18499416_18499424del | GRCh37 |
| NC_000019.8:g.18360416_18360424del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595973.3:c.598_606del | ENSP00000470531.3:p.Gly200_His202del | |
| ENST00000597765.2:c.598_606del | ENSP00000469819.2:p.Gly200_His202del | |
| ENST00000252809.3:c.598_606del MANE Select | ENSP00000252809.3:p.Gly200_His202del | |
| NM_004864.2:c.598_606del | NP_004855.2:p.Gly200_His202del | |
| NM_004864.3:c.598_606del | NP_004855.2:p.Gly200_His202del | |
| XM_024451789.1:c.598_606del | XP_024307557.1:p.Gly200_His202del | |
| NM_004864.4:c.598_606del MANE Select | NP_004855.2:p.Gly200_His202del |