Linked Data
dbSNP Id:
rs80358283
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86954835_86954842del , CM000673.2:g.86954835_86954842del | GRCh38 |
| NC_000011.9:g.86665877_86665884del , CM000673.1:g.86665877_86665884del | GRCh37 |
| NC_000011.8:g.86343525_86343532del | NCBI36 |
| NG_011752.1:g.5550_5557del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.244_251del MANE Select | ENSP00000434034.1:p.Phe82AlafsTer? | |
| ENST00000531380.1:c.244_251del | ENSP00000434034.1:p.Phe82AlafsTer? | |
| NM_012193.3:c.244_251del | NP_036325.2:p.Phe82AlafsTer? | |
| NM_012193.4:c.244_251del MANE Select | NP_036325.2:p.Phe82AlafsTer? |