Linked Data
gnomAD v4:
19-10223790-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10223792del , CM000681.2:g.10223792del | GRCh38 |
| NC_000019.9:g.10334468del , CM000681.1:g.10334468del | GRCh37 |
| NC_000019.8:g.10195468del | NCBI36 |
| NG_028016.3:g.12496del , LRG_362:g.12496del | |
| NG_046802.1:g.13017del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646641.1:c.*53del (S1PR2) MANE Select | ENSP00000496438.1:n.*53del | |
| ENST00000588952.5:c.-401-4922del (DNMT1) | ENSP00000467050.1:n.-401-4922del | |
| ENST00000590320.2:c.*53del (S1PR2) | ENSP00000466933.1:n.*53del | |
| ENST00000592342.5:c.-284+7413del (DNMT1) | ENSP00000465993.1:n.-284+7413del | |
| NM_004230.3:c.*53del (S1PR2) | NP_004221.3:n.*53del | |
| XM_011528425.1:c.894+221del (S1PR2) | XP_011526727.1:n.894+221del | |
| NM_004230.4:c.*53del (S1PR2) MANE Select | NP_004221.3:n.*53del |