Linked Data
gnomAD v4:
19-4816147-CAGGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816148_4816151del , CM000681.2:g.4816148_4816151del | GRCh38 |
| NC_000019.9:g.4816160_4816163del , CM000681.1:g.4816160_4816163del | GRCh37 |
| NC_000019.8:g.4767160_4767163del | NCBI36 |
| NG_031998.1:g.20592_20595del , LRG_358:g.20592_20595del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.*88_*91del MANE Select | ENSP00000248244.4:n.*88_*91del | |
| ENST00000248244.5:c.*88_*91del | ENSP00000248244.4:n.*88_*91del | |
| NM_182919.3:c.*88_*91del , LRG_358t1:c.*88_*91del | NP_891549.1:n.*88_*91del | |
| NM_001385678.1:c.*88_*91del | NP_001372607.1:n.*88_*91del | |
| NM_001385679.1:c.*88_*91del | NP_001372608.1:n.*88_*91del | |
| NM_001385680.1:c.*88_*91del | NP_001372609.1:n.*88_*91del | |
| NM_182919.4:c.*88_*91del MANE Select | NP_891549.1:n.*88_*91del |