Linked Data
ClinVar Variation Id:
2804924
ClinVar RCV Id:
RCV003684349
dbSNP Id:
rs761885298
ExAC:
19:49121138 TG / T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48617886del , CM000681.2:g.48617886del | GRCh38 |
| NC_000019.9:g.49121143del , CM000681.1:g.49121143del | GRCh37 |
| NC_000019.8:g.53812955del | NCBI36 |
| NG_029867.1:g.3596del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000549920.6:c.4-5del MANE Select | ENSP00000447001.1:n.4-5del | |
| ENST00000547892.1:n.1294del | ||
| ENST00000547897.5:c.4-5del | ENSP00000470988.1:n.4-5del | |
| ENST00000549273.5:c.4-5del | ENSP00000449610.1:n.4-5del | |
| ENST00000549370.5:c.4-5del | ENSP00000449067.1:n.4-5del | |
| ENST00000549920.5:c.4-5del | ENSP00000447001.1:n.4-5del | |
| ENST00000550645.5:c.4-5del | ENSP00000448899.1:n.4-5del | |
| ENST00000550671.1:n.45-5del | ||
| ENST00000550973.5:c.-153-5del | ENSP00000447894.1:n.-153-5del | |
| ENST00000551749.5:n.44-5del | ||
| ENST00000552347.5:n.24-5del | ||
| ENST00000552588.5:c.4-459del | ENSP00000449204.1:n.4-459del | |
| ENST00000552705.5:n.44-5del | ||
| ENST00000552851.1:n.25-459del | ||
| NM_000979.3:c.4-5del | NP_000970.1:n.4-5del | |
| NM_001270490.1:c.4-459del | NP_001257419.1:n.4-459del | |
| NR_073022.1:n.279-5del | ||
| NM_000979.4:c.4-5del MANE Select | NP_000970.1:n.4-5del | |
| NM_001270490.2:c.4-459del | NP_001257419.1:n.4-459del | |
| NR_073022.2:n.39-5del |