Linked Data
dbSNP Id:
rs1340598778
gnomAD v2:
15-90631774-CG-C
gnomAD v3:
15-90088542-CG-C
gnomAD v4:
15-90088542-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088548del , CM000677.2:g.90088548del | GRCh38 |
| NC_000015.9:g.90631780del , CM000677.1:g.90631780del | GRCh37 |
| NC_000015.8:g.88432784del | NCBI36 |
| NG_023302.1:g.18934del , LRG_611:g.18934del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.535-41del MANE Select | ENSP00000331897.4:n.535-41del | |
| ENST00000330062.7:c.535-41del | ENSP00000331897.3:n.535-41del | |
| ENST00000540499.2:c.379-41del | ENSP00000446147.2:n.379-41del | |
| ENST00000559482.5:c.208-41del | ENSP00000453016.1:n.208-41del | |
| ENST00000560061.1:c.*160-41del | ENSP00000453254.1:n.*160-41del | |
| NM_001289910.1:c.379-41del , LRG_611t1:c.379-41del | NP_001276839.1:n.379-41del | |
| NM_001290114.1:c.145-41del | NP_001277043.1:n.145-41del | |
| NM_002168.3:c.535-41del , LRG_611t2:c.535-41del | NP_002159.2:n.535-41del | |
| NM_001290114.2:c.145-41del | NP_001277043.1:n.145-41del | |
| NM_002168.4:c.535-41del MANE Select | NP_002159.2:n.535-41del |