Linked Data
ClinVar Variation Id:
2159924
ClinVar RCV Id:
RCV003073073
dbSNP Id:
rs1491487392
gnomAD v4:
19-7561126-GAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7561127_7561128del , CM000681.2:g.7561127_7561128del | GRCh38 |
| NC_000019.9:g.7626013_7626014del , CM000681.1:g.7626013_7626014del | GRCh37 |
| NC_000019.8:g.7532013_7532014del | NCBI36 |
| NG_013374.1:g.31976_31977del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3913+17_3913+18del MANE Select | ENSP00000473211.1:n.3913+17_3913+18del | |
| ENST00000221249.10:c.3799+17_3799+18del | ENSP00000221249.5:n.3799+17_3799+18del | |
| ENST00000414982.7:c.3943+17_3943+18del | ENSP00000407509.2:n.3943+17_3943+18del | |
| ENST00000450331.7:c.3799+17_3799+18del | ENSP00000394348.2:n.3799+17_3799+18del | |
| ENST00000545201.6:c.3718+17_3718+18del | ENSP00000443323.1:n.3718+17_3718+18del | |
| ENST00000597202.1:n.271+17_271+18del | ||
| ENST00000599947.1:c.282+17_282+18del | ||
| ENST00000600737.5:c.3913+17_3913+18del | ENSP00000473211.1:n.3913+17_3913+18del | |
| NM_001166111.1:c.3943+17_3943+18del | NP_001159583.1:n.3943+17_3943+18del | |
| NM_001166112.1:c.3718+17_3718+18del | NP_001159584.1:n.3718+17_3718+18del | |
| NM_001166113.1:c.3799+17_3799+18del | NP_001159585.1:n.3799+17_3799+18del | |
| NM_001166114.1:c.3913+17_3913+18del | NP_001159586.1:n.3913+17_3913+18del | |
| NM_006702.4:c.3799+17_3799+18del | NP_006693.3:n.3799+17_3799+18del | |
| NM_001166111.2:c.3943+17_3943+18del | NP_001159583.1:n.3943+17_3943+18del | |
| NM_001166114.2:c.3913+17_3913+18del MANE Select | NP_001159586.1:n.3913+17_3913+18del | |
| NM_006702.5:c.3799+17_3799+18del | NP_006693.3:n.3799+17_3799+18del | |
| NM_001166112.2:c.3718+17_3718+18del | NP_001159584.1:n.3718+17_3718+18del |