Linked Data
dbSNP Id:
rs1204069547
gnomAD v2:
9-32455824-AC-A
gnomAD v3:
9-32455826-AC-A
gnomAD v4:
9-32455826-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32455829del , CM000671.2:g.32455829del | GRCh38 |
| NC_000009.11:g.32455827del , CM000671.1:g.32455827del | GRCh37 |
| NC_000009.10:g.32445827del | NCBI36 |
| NG_046918.1:g.75498del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379868.6:c.*1295del | ENSP00000369197.2:n.*1295del | |
| ENST00000379883.3:c.*1295del MANE Select | ENSP00000369213.2:n.*1295del | |
| ENST00000679665.1:c.*1295del | ENSP00000504921.1:n.*1295del | |
| ENST00000679771.1:c.*3496del | ENSP00000505015.1:n.*3496del | |
| ENST00000680198.1:c.*3841del | ENSP00000505143.1:n.*3841del | |
| ENST00000681750.1:c.*1295del | ENSP00000506413.1:n.*1295del | |
| ENST00000379868.5:c.*1295del | ENSP00000369197.1:n.*1295del | |
| ENST00000379883.2:c.*1295del | ENSP00000369213.2:n.*1295del | |
| NM_014314.3:c.*1295del | NP_055129.2:n.*1295del | |
| NM_014314.4:c.*1295del MANE Select | NP_055129.2:n.*1295del | |
| NM_001385907.1:c.*1295del | NP_001372836.1:n.*1295del | |
| NM_001385909.1:c.*1295del | NP_001372838.1:n.*1295del | |
| NM_001385910.1:c.*1295del | NP_001372839.1:n.*1295del | |
| NM_001385912.1:c.*1295del | NP_001372841.1:n.*1295del | |
| NM_001385913.1:c.*1295del | NP_001372842.1:n.*1295del | |
| NM_001385914.1:c.*1295del | NP_001372843.1:n.*1295del |