Linked Data
ClinVar Variation Id:
418220
dbSNP Id:
rs1064793131
gnomAD v4:
14-87993009-GC-G
MyVariant Identifiers:
chr14:g.88459354del (hg19)
chr14:g.88459354delC (hg19)
chr14:g.87993010del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87993012del , CM000676.2:g.87993012del | GRCh38 |
| NC_000014.8:g.88459356del , CM000676.1:g.88459356del | GRCh37 |
| NC_000014.7:g.87529109del | NCBI36 |
| NG_011853.2:g.5554del | |
| NG_011853.3:g.5554del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.155del MANE Select | ENSP00000261304.2:p.Gly52AlafsTer20 | |
| ENST00000261304.6:c.155del | ENSP00000261304.2:p.Gly52AlafsTer20 | |
| ENST00000393568.8:c.155del | ENSP00000377198.4:p.Gly52AlafsTer24 | |
| ENST00000393569.6:c.117+373del | ENSP00000377199.2:n.117+373del | |
| ENST00000474294.6:n.145del | ||
| ENST00000554372.5:c.155del | ENSP00000451884.1:p.Gly52AlafsTer20 | |
| ENST00000556879.5:c.113del | ENSP00000452208.1:p.Gly38AlafsTer22 | |
| ENST00000557316.5:c.155del | ENSP00000452314.1:p.Gly52AlafsTer20 | |
| ENST00000622264.4:c.145del | ||
| NM_000153.3:c.155del | NP_000144.2:p.Gly52AlafsTer20 | |
| NM_001201401.1:c.155del | NP_001188330.1:p.Gly52AlafsTer24 | |
| NM_001201402.1:c.117+373del | NP_001188331.1:n.117+373del | |
| NM_000153.4:c.155del MANE Select | NP_000144.2:p.Gly52AlafsTer20 | |
| NM_001201401.2:c.155del | NP_001188330.1:p.Gly52AlafsTer24 | |
| NM_001201402.2:c.117+373del | NP_001188331.1:n.117+373del |