Linked Data
ClinVar Variation Id:
290134
dbSNP Id:
rs758687942
ExAC:
18:21140382 CCACAGA / C
gnomAD v2:
18-21140382-CCACAGA-C
gnomAD v3:
18-23560418-CCACAGA-C
gnomAD v4:
18-23560418-CCACAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23560420_23560425del , CM000680.2:g.23560420_23560425del | GRCh38 |
| NC_000018.9:g.21140384_21140389del , CM000680.1:g.21140384_21140389del | GRCh37 |
| NC_000018.8:g.19394382_19394387del | NCBI36 |
| NG_012795.1:g.31194_31199del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269228.10:c.688_693del MANE Select | ENSP00000269228.4:p.Ser230_Val231del | |
| ENST00000269228.9:c.688_693del | ENSP00000269228.4:p.Ser230_Val231del | |
| ENST00000540608.5:n.602_607del | ||
| NM_000271.4:c.688_693del | NP_000262.2:p.Ser230_Val231del | |
| XM_005258277.1:c.688_693del | XP_005258334.1:p.Ser230_Val231del | |
| XM_005258278.3:c.688_693del | XP_005258335.1:p.Ser230_Val231del | |
| XM_005258279.1:c.688_693del | XP_005258336.1:p.Ser230_Val231del | |
| XM_006722479.2:c.688_693del | XP_006722542.1:p.Ser230_Val231del | |
| XM_011526015.1:c.223_228del | XP_011524317.1:p.Ser75_Val76del | |
| XM_005258278.5:c.688_693del | XP_005258335.1:p.Ser230_Val231del | |
| XM_005258279.2:c.688_693del | XP_005258336.1:p.Ser230_Val231del | |
| XM_006722479.3:c.688_693del | XP_006722542.1:p.Ser230_Val231del | |
| XM_017025784.1:c.688_693del | XP_016881273.1:p.Ser230_Val231del | |
| XM_017025785.1:c.688_693del | XP_016881274.1:p.Ser230_Val231del | |
| XM_017025786.1:c.688_693del | XP_016881275.1:p.Ser230_Val231del | |
| XM_017025787.1:c.688_693del | XP_016881276.1:p.Ser230_Val231del | |
| NM_000271.5:c.688_693del MANE Select | NP_000262.2:p.Ser230_Val231del |