Linked Data
dbSNP Id:
rs770870872
ExAC:
18:22057196 AT / A
gnomAD v2:
18-22057196-AT-A
gnomAD v3:
18-24477232-AT-A
gnomAD v4:
18-24477232-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24477233del , CM000680.2:g.24477233del | GRCh38 |
| NC_000018.9:g.22057197del , CM000680.1:g.22057197del | GRCh37 |
| NC_000018.8:g.20311195del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256906.5:c.844del MANE Select | ENSP00000256906.4:p.Ser282GlnfsTer4 | |
| ENST00000256906.4:c.844del | ENSP00000256906.4:p.Ser282GlnfsTer4 | |
| ENST00000426880.2:c.580del | ENSP00000402526.2:p.Ser194GlnfsTer4 | |
| NM_001143828.1:c.580del | NP_001137300.1:p.Ser194GlnfsTer4 | |
| NM_001160166.1:c.*476del | NP_001153638.1:n.*476del | |
| NM_021624.3:c.844del | NP_067637.2:p.Ser282GlnfsTer4 | |
| XM_011526133.1:c.357+8282del | XP_011524435.1:n.357+8282del | |
| NM_021624.4:c.844del MANE Select | NP_067637.2:p.Ser282GlnfsTer4 | |
| NM_001143828.2:c.580del | NP_001137300.1:p.Ser194GlnfsTer4 | |
| NM_001160166.2:c.*476del | NP_001153638.1:n.*476del |