Linked Data
dbSNP Id:
rs1735825651
gnomAD v3:
5-14871518-ACGGGGCG-A
gnomAD v4:
5-14871518-ACGGGGCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871519_14871525del , CM000667.2:g.14871519_14871525del | GRCh38 |
| NC_000005.9:g.14871628_14871634del , CM000667.1:g.14871628_14871634del | GRCh37 |
| NC_000005.8:g.14924628_14924634del | NCBI36 |
| NG_008273.1:g.5254_5260del | |
| NG_008273.2:g.5261_5267del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.-78_-72del MANE Select | ENSP00000284268.6:n.-78_-72del | |
| ENST00000284268.6:c.-78_-72del | ENSP00000284268.6:n.-78_-72del | |
| ENST00000505140.1:c.-78_-72del | ENSP00000426332.1:n.-78_-72del | |
| NM_054027.4:c.-78_-72del | NP_473368.1:n.-78_-72del | |
| XM_011514067.1:c.-78_-72del | XP_011512369.1:n.-78_-72del | |
| NM_054027.5:c.-78_-72del | NP_473368.1:n.-78_-72del | |
| NM_054027.6:c.-78_-72del MANE Select | NP_473368.1:n.-78_-72del |