Linked Data
gnomAD v4:
5-14871561-GGGCGGCGGGGCCTCGGGCGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871570_14871589del , CM000667.2:g.14871570_14871589del | GRCh38 |
| NC_000005.9:g.14871679_14871698del , CM000667.1:g.14871679_14871698del | GRCh37 |
| NC_000005.8:g.14924679_14924698del | NCBI36 |
| NG_008273.1:g.5198_5217del | |
| NG_008273.2:g.5205_5224del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.-134_-115del MANE Select | ENSP00000284268.6:n.-134_-115del | |
| ENST00000284268.6:c.-134_-115del | ENSP00000284268.6:n.-134_-115del | |
| ENST00000505140.1:c.-134_-115del | ENSP00000426332.1:n.-134_-115del | |
| NM_054027.4:c.-134_-115del | NP_473368.1:n.-134_-115del | |
| XM_011514067.1:c.-134_-115del | XP_011512369.1:n.-134_-115del | |
| NM_054027.5:c.-134_-115del | NP_473368.1:n.-134_-115del | |
| NM_054027.6:c.-134_-115del MANE Select | NP_473368.1:n.-134_-115del |