Linked Data
dbSNP Id:
rs1735832364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871599_14871601del , CM000667.2:g.14871599_14871601del | GRCh38 |
| NC_000005.9:g.14871708_14871710del , CM000667.1:g.14871708_14871710del | GRCh37 |
| NC_000005.8:g.14924708_14924710del | NCBI36 |
| NG_008273.1:g.5184_5186del | |
| NG_008273.2:g.5191_5193del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.-148_-146del MANE Select | ENSP00000284268.6:n.-148_-146del | |
| ENST00000284268.6:c.-148_-146del | ENSP00000284268.6:n.-148_-146del | |
| ENST00000505140.1:c.-148_-146del | ENSP00000426332.1:n.-148_-146del | |
| NM_054027.4:c.-148_-146del | NP_473368.1:n.-148_-146del | |
| XM_011514067.1:c.-148_-146del | XP_011512369.1:n.-148_-146del | |
| NM_054027.5:c.-148_-146del | NP_473368.1:n.-148_-146del | |
| NM_054027.6:c.-148_-146del MANE Select | NP_473368.1:n.-148_-146del |