Linked Data
dbSNP Id:
rs1763032635
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114129_140114137del , CM000667.2:g.140114129_140114137del | GRCh38 |
| NC_000005.9:g.139493714_139493722del , CM000667.1:g.139493714_139493722del | GRCh37 |
| NC_000005.8:g.139473898_139473906del | NCBI36 |
| NG_041813.1:g.5007_5015del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.-53_-45del MANE Select | ENSP00000332706.3:n.-53_-45del | |
| ENST00000505703.2:c.-53_-45del | ENSP00000498560.1:n.-53_-45del | |
| ENST00000651386.1:c.-53_-45del | ENSP00000499133.1:n.-53_-45del | |
| ENST00000331327.4:c.-53_-45del | ENSP00000332706.3:n.-53_-45del | |
| ENST00000502351.1:n.371_379del | ||
| ENST00000505703.1:n.413_421del | ||
| NM_005859.4:c.-53_-45del | NP_005850.1:n.-53_-45del | |
| NM_005859.5:c.-53_-45del MANE Select | NP_005850.1:n.-53_-45del |