Linked Data
gnomAD v4:
5-14871469-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871476_14871477del , CM000667.2:g.14871476_14871477del | GRCh38 |
| NC_000005.9:g.14871585_14871586del , CM000667.1:g.14871585_14871586del | GRCh37 |
| NC_000005.8:g.14924585_14924586del | NCBI36 |
| NG_008273.1:g.5308_5309del | |
| NG_008273.2:g.5315_5316del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.-24_-23del MANE Select | ENSP00000284268.6:n.-24_-23del | |
| ENST00000284268.6:c.-24_-23del | ENSP00000284268.6:n.-24_-23del | |
| ENST00000505140.1:c.-24_-23del | ENSP00000426332.1:n.-24_-23del | |
| NM_054027.4:c.-24_-23del | NP_473368.1:n.-24_-23del | |
| XM_011514067.1:c.-24_-23del | XP_011512369.1:n.-24_-23del | |
| NM_054027.5:c.-24_-23del | NP_473368.1:n.-24_-23del | |
| NM_054027.6:c.-24_-23del MANE Select | NP_473368.1:n.-24_-23del |