Linked Data
dbSNP Id:
rs1889667747
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75009086del , CM000676.2:g.75009086del | GRCh38 |
| NC_000014.8:g.75475789del , CM000676.1:g.75475789del | GRCh37 |
| NC_000014.7:g.74545542del | NCBI36 |
| NG_013333.1:g.11178del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.954del MANE Select | ENSP00000266126.5:p.Glu319SerfsTer21 | |
| ENST00000266126.9:c.954del | ENSP00000266126.5:p.Glu319SerfsTer21 | |
| ENST00000556668.1:n.534del | ||
| NM_014239.3:c.954del | NP_055054.1:p.Glu319SerfsTer21 | |
| NM_014239.4:c.954del MANE Select | NP_055054.1:p.Glu319SerfsTer21 |