Linked Data
dbSNP Id:
rs34623519
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816217del , CM000681.2:g.4816217del | GRCh38 |
| NC_000019.9:g.4816229del , CM000681.1:g.4816229del | GRCh37 |
| NC_000019.8:g.4767229del | NCBI36 |
| NG_031998.1:g.20527del , LRG_358:g.20527del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.*23del MANE Select | ENSP00000248244.4:n.*23del | |
| ENST00000248244.5:c.*23del | ENSP00000248244.4:n.*23del | |
| NM_182919.3:c.*23del , LRG_358t1:c.*23del | NP_891549.1:n.*23del | |
| NM_001385678.1:c.*23del | NP_001372607.1:n.*23del | |
| NM_001385679.1:c.*23del | NP_001372608.1:n.*23del | |
| NM_001385680.1:c.*23del | NP_001372609.1:n.*23del | |
| NM_182919.4:c.*23del MANE Select | NP_891549.1:n.*23del |