Linked Data
dbSNP Id:
rs754839413
gnomAD v2:
19-45910227-AG-A
gnomAD v3:
19-45406969-AG-A
gnomAD v4:
19-45406969-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45406971del , CM000681.2:g.45406971del | GRCh38 |
| NC_000019.9:g.45910229del , CM000681.1:g.45910229del | GRCh37 |
| NC_000019.8:g.50602069del | NCBI36 |
| NG_015839.2:g.76859del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309424.8:c.23-123del MANE Select | ENSP00000310966.3:n.23-123del | |
| ENST00000309424.7:c.23-123del | ENSP00000310966.3:n.23-123del | |
| ENST00000589804.1:c.29-123del | ENSP00000465099.1:n.29-123del | |
| ENST00000590794.1:c.20+253del | ||
| ENST00000592852.1:c.-635del | ENSP00000467771.1:n.-635del | |
| NM_001297590.1:c.29-123del | NP_001284519.1:n.29-123del | |
| NM_012099.1:c.23-123del | NP_036231.1:n.23-123del | |
| NM_001297590.2:c.29-123del | NP_001284519.1:n.29-123del | |
| NM_012099.2:c.23-123del | NP_036231.1:n.23-123del | |
| NM_001297590.3:c.29-123del | NP_001284519.1:n.29-123del | |
| NM_012099.3:c.23-123del MANE Select | NP_036231.1:n.23-123del |