Linked Data
dbSNP Id:
rs1005100191
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488408del , CM000674.2:g.52488408del | GRCh38 |
| NC_000012.11:g.52882192del , CM000674.1:g.52882192del | GRCh37 |
| NC_000012.10:g.51168459del | NCBI36 |
| NG_008298.1:g.9991del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1345del MANE Select | ENSP00000369317.3:p.Gln449ArgfsTer3 | |
| ENST00000330722.6:c.1345del | ENSP00000369317.3:p.Gln449ArgfsTer3 | |
| NM_005554.3:c.1345del | NP_005545.1:p.Gln449ArgfsTer3 | |
| NM_005554.4:c.1345del MANE Select | NP_005545.1:p.Gln449ArgfsTer3 |