Linked Data
dbSNP Id:
rs1831050698
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101421796_101421801del , CM000671.2:g.101421796_101421801del | GRCh38 |
| NC_000009.11:g.104184078_104184083del , CM000671.1:g.104184078_104184083del | GRCh37 |
| NC_000009.10:g.103223899_103223904del | NCBI36 |
| NG_012387.1:g.18980_18985del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.*8_*13del MANE Select | ENSP00000497767.1:n.*8_*13del | |
| ENST00000648064.1:c.*8_*13del | ENSP00000497990.1:n.*8_*13del | |
| ENST00000648758.1:c.*8_*13del | ENSP00000497731.1:n.*8_*13del | |
| ENST00000374855.8:c.*8_*13del | ENSP00000363988.4:n.*8_*13del | |
| ENST00000616752.1:c.*115_*120del | ENSP00000481363.1:n.*115_*120del | |
| NM_000035.3:c.*8_*13del | NP_000026.2:n.*8_*13del | |
| NM_000035.4:c.*8_*13del MANE Select | NP_000026.2:n.*8_*13del |