Linked Data
dbSNP Id:
rs1157812024
gnomAD v3:
15-74749506-ATGTTGGG-A
gnomAD v4:
15-74749506-ATGTTGGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749507_74749513del , CM000677.2:g.74749507_74749513del | GRCh38 |
| NC_000015.9:g.75041848_75041854del , CM000677.1:g.75041848_75041854del | GRCh37 |
| NC_000015.8:g.72828901_72828907del | NCBI36 |
| NG_008431.1:g.31966_31972del | |
| NG_008431.2:g.31966_31972del | |
| NG_061543.1:g.5663_5669del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.-9-223_-9-217del MANE Select | ENSP00000342007.4:n.-9-223_-9-217del | |
| ENST00000343932.4:c.-9-223_-9-217del | ENSP00000342007.4:n.-9-223_-9-217del | |
| NM_000761.4:c.-9-223_-9-217del | NP_000752.2:n.-9-223_-9-217del | |
| NM_000761.5:c.-9-223_-9-217del MANE Select | NP_000752.2:n.-9-223_-9-217del |