Linked Data
ClinVar Variation Id:
197110
dbSNP Id:
rs775277935
ExAC:
14:88452844 AT / A
gnomAD v2:
14-88452844-AT-A
gnomAD v3:
14-87986500-AT-A
gnomAD v4:
14-87986500-AT-A
MyVariant Identifiers:
chr14:g.88452845del (hg19)
chr14:g.88452845delT (hg19)
chr14:g.87986501del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87986501del , CM000676.2:g.87986501del | GRCh38 |
| NC_000014.8:g.88452845del , CM000676.1:g.88452845del | GRCh37 |
| NC_000014.7:g.87522598del | NCBI36 |
| NG_011853.2:g.12063del | |
| NG_011853.3:g.12063del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.430del MANE Select | ENSP00000261304.2:p.Ile144LeufsTer27 | |
| ENST00000261304.6:c.430del | ENSP00000261304.2:p.Ile144LeufsTer27 | |
| ENST00000393568.8:c.361del | ENSP00000377198.4:p.Ile121LeufsTer27 | |
| ENST00000393569.6:c.352del | ENSP00000377199.2:p.Ile118LeufsTer27 | |
| ENST00000474294.6:n.420del | ||
| ENST00000544807.6:c.262del | ENSP00000437513.2:p.Ile88LeufsTer27 | |
| ENST00000554372.5:c.*179del | ENSP00000451884.1:n.*179del | |
| ENST00000554916.5:n.309del | ||
| ENST00000556261.5:n.131del | ||
| ENST00000556879.5:c.490del | ENSP00000452208.1:n.490del | |
| ENST00000557316.5:c.430del | ENSP00000452314.1:p.Ile144LeufsTer27 | |
| ENST00000622264.4:c.420del | ||
| NM_000153.3:c.430del | NP_000144.2:p.Ile144LeufsTer27 | |
| NM_001201401.1:c.361del | NP_001188330.1:p.Ile121LeufsTer27 | |
| NM_001201402.1:c.352del | NP_001188331.1:p.Ile118LeufsTer27 | |
| XM_011536618.1:c.262del | XP_011534920.1:p.Ile88LeufsTer27 | |
| XM_011536618.2:c.262del | XP_011534920.1:p.Ile88LeufsTer27 | |
| NM_000153.4:c.430del MANE Select | NP_000144.2:p.Ile144LeufsTer27 | |
| NM_001201401.2:c.361del | NP_001188330.1:p.Ile121LeufsTer27 | |
| NM_001201402.2:c.352del | NP_001188331.1:p.Ile118LeufsTer27 |