Linked Data
dbSNP Id:
rs2050513702
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9126831_9126839del , CM000681.2:g.9126831_9126839del | GRCh38 |
| NC_000019.9:g.9237507_9237515del , CM000681.1:g.9237507_9237515del | GRCh37 |
| NC_000019.8:g.9098507_9098515del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305444.2:c.112_120del MANE Select | ENSP00000302867.2:p.Thr38_Leu40del | |
| NM_001001958.1:c.112_120del MANE Select | NP_001001958.1:p.Thr38_Leu40del |