Linked Data
dbSNP Id:
rs889239284
gnomAD v4:
9-133352610-TATAA-T
MyVariant Identifiers:
chr9:g.133352611_133352614del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352612_133352615del , CM000671.2:g.133352612_133352615del | GRCh38 |
| NC_000009.10:g.135209288_135209291del | NCBI36 |
| NG_008477.1:g.8893_8896del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.589-6_589-3del MANE Select | ENSP00000361042.3:n.589-6_589-3del | |
| ENST00000371974.7:c.589-6_589-3del | ENSP00000361042.3:n.589-6_589-3del | |
| ENST00000437995.1:n.499-6_499-3del | ||
| ENST00000495952.5:n.579-6_579-3del | ||
| ENST00000615505.4:c.262-6_262-3del | ENSP00000482067.1:n.262-6_262-3del | |
| NM_001280787.1:c.262-6_262-3del | NP_001267716.1:n.262-6_262-3del | |
| NM_003172.3:c.589-6_589-3del | NP_003163.1:n.589-6_589-3del | |
| XM_011518942.1:c.262-6_262-3del | XP_011517244.1:n.262-6_262-3del | |
| NM_003172.4:c.589-6_589-3del MANE Select | NP_003163.1:n.589-6_589-3del |