Linked Data
dbSNP Id:
rs772032329
ExAC:
7:143049145 GC / G
gnomAD v2:
7-143049145-GC-G
gnomAD v4:
7-143352052-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143352053del , CM000669.2:g.143352053del | GRCh38 |
| NC_000007.13:g.143049146del , CM000669.1:g.143049146del | GRCh37 |
| NC_000007.12:g.142759268del | NCBI36 |
| NG_009815.1:g.40928del | |
| NG_009815.2:g.40928del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.*88del | ENSP00000498052.2:n.*88del | |
| ENST00000343257.7:c.*88del MANE Select | ENSP00000339867.2:n.*88del | |
| ENST00000343257.6:c.*88del | ENSP00000339867.2:n.*88del | |
| XM_011515781.1:c.*88del | XP_011514083.1:n.*88del | |
| XM_011515782.1:c.*88del | XP_011514084.1:n.*88del | |
| NM_000083.3:c.*88del MANE Select | NP_000074.3:n.*88del | |
| NR_046453.2:n.3010del |