Linked Data
dbSNP Id:
rs1735828185
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871534_14871575del , CM000667.2:g.14871534_14871575del | GRCh38 |
| NC_000005.9:g.14871643_14871684del , CM000667.1:g.14871643_14871684del | GRCh37 |
| NC_000005.8:g.14924643_14924684del | NCBI36 |
| NG_008273.1:g.5204_5245del | |
| NG_008273.2:g.5211_5252del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.-128_-87del MANE Select | ENSP00000284268.6:n.-128_-87del | |
| ENST00000284268.6:c.-128_-87del | ENSP00000284268.6:n.-128_-87del | |
| ENST00000505140.1:c.-128_-87del | ENSP00000426332.1:n.-128_-87del | |
| NM_054027.4:c.-128_-87del | NP_473368.1:n.-128_-87del | |
| XM_011514067.1:c.-128_-87del | XP_011512369.1:n.-128_-87del | |
| NM_054027.5:c.-128_-87del | NP_473368.1:n.-128_-87del | |
| NM_054027.6:c.-128_-87del MANE Select | NP_473368.1:n.-128_-87del |