Linked Data
dbSNP Id:
rs1322895611
gnomAD v2:
19-55820135-GC-G
gnomAD v3:
19-55308767-GC-G
gnomAD v4:
19-55308767-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55308768del , CM000681.2:g.55308768del | GRCh38 |
| NC_000019.9:g.55820136del , CM000681.1:g.55820136del | GRCh37 |
| NC_000019.8:g.60511948del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309383.6:c.2179+40del MANE Select | ENSP00000310649.1:n.2179+40del | |
| ENST00000309383.5:c.2179+40del | ENSP00000310649.1:n.2179+40del | |
| ENST00000326848.7:c.1264+40del | ENSP00000320853.7:n.1264+40del | |
| ENST00000590333.5:c.2227+40del | ENSP00000468190.1:n.2227+40del | |
| NM_032430.1:c.2179+40del | NP_115806.1:n.2179+40del | |
| XM_005259327.2:c.1909+40del | XP_005259384.1:n.1909+40del | |
| XM_011527395.1:c.1936+40del | XP_011525697.1:n.1936+40del | |
| XR_430213.2:n.2162+40del | ||
| XM_005259327.3:c.1909+40del | XP_005259384.1:n.1909+40del | |
| XM_011527395.2:c.1651+40del | XP_011525697.2:n.1651+40del | |
| XM_024451739.1:c.1954+40del | XP_024307507.1:n.1954+40del | |
| XR_430213.4:n.2460+40del | ||
| NM_032430.2:c.2179+40del MANE Select | NP_115806.1:n.2179+40del |