Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871520_14871551del , CM000667.2:g.14871520_14871551del | GRCh38 |
| NC_000005.9:g.14871629_14871660del , CM000667.1:g.14871629_14871660del | GRCh37 |
| NC_000005.8:g.14924629_14924660del | NCBI36 |
| NG_008273.1:g.5232_5263del | |
| NG_008273.2:g.5239_5270del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.-100_-69del MANE Select | ENSP00000284268.6:n.-100_-69del | |
| ENST00000284268.6:c.-100_-69del | ENSP00000284268.6:n.-100_-69del | |
| ENST00000505140.1:c.-100_-69del | ENSP00000426332.1:n.-100_-69del | |
| NM_054027.4:c.-100_-69del | NP_473368.1:n.-100_-69del | |
| XM_011514067.1:c.-100_-69del | XP_011512369.1:n.-100_-69del | |
| NM_054027.5:c.-100_-69del | NP_473368.1:n.-100_-69del | |
| NM_054027.6:c.-100_-69del MANE Select | NP_473368.1:n.-100_-69del |