Linked Data
dbSNP Id:
rs1840626213
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313662_30313665del , CM000672.2:g.30313662_30313665del | GRCh38 |
| NC_000010.10:g.30602591_30602594del , CM000672.1:g.30602591_30602594del | GRCh37 |
| NC_000010.9:g.30642597_30642600del | NCBI36 |
| NG_028096.1:g.40674_40677del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1693_1696del MANE Select | ENSP00000263063.3:p.Arg565GlnfsTer24 | |
| ENST00000263063.8:c.1693_1696del | ENSP00000263063.3:p.Arg565GlnfsTer24 | |
| ENST00000488290.5:n.3448_3451del | ||
| NM_018109.3:c.1693_1696del | NP_060579.3:p.Arg565GlnfsTer24 | |
| NM_018109.4:c.1693_1696del MANE Select | NP_060579.3:p.Arg565GlnfsTer24 |