Linked Data
ClinVar Variation Id:
1202411
ClinVar RCV Id:
RCV001568079
dbSNP Id:
rs201427106
gnomAD v2:
14-88442502-CTT-C
gnomAD v3:
14-87976158-CTT-C
gnomAD v4:
14-87976158-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87976159_87976160del , CM000676.2:g.87976159_87976160del | GRCh38 |
| NC_000014.8:g.88442503_88442504del , CM000676.1:g.88442503_88442504del | GRCh37 |
| NC_000014.7:g.87512256_87512257del | NCBI36 |
| NG_011853.2:g.22404_22405del | |
| NG_011853.3:g.22404_22405del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.752+198_752+199del MANE Select | ENSP00000261304.2:n.752+198_752+199del | |
| ENST00000261304.6:c.752+198_752+199del | ENSP00000261304.2:n.752+198_752+199del | |
| ENST00000393568.8:c.683+198_683+199del | ENSP00000377198.4:n.683+198_683+199del | |
| ENST00000393569.6:c.674+198_674+199del | ENSP00000377199.2:n.674+198_674+199del | |
| ENST00000474294.6:n.742+198_742+199del | ||
| ENST00000477716.3:n.507+198_507+199del | ||
| ENST00000544807.6:c.584+198_584+199del | ENSP00000437513.2:n.584+198_584+199del | |
| ENST00000555000.5:c.119+198_119+199del | ENSP00000450472.1:n.119+198_119+199del | |
| ENST00000557316.5:c.*150+198_*150+199del | ENSP00000452314.1:n.*150+198_*150+199del | |
| ENST00000622264.4:c.742+198_742+199del | ||
| NM_000153.3:c.752+198_752+199del | NP_000144.2:n.752+198_752+199del | |
| NM_001201401.1:c.683+198_683+199del | NP_001188330.1:n.683+198_683+199del | |
| NM_001201402.1:c.674+198_674+199del | NP_001188331.1:n.674+198_674+199del | |
| XM_011536618.1:c.584+198_584+199del | XP_011534920.1:n.584+198_584+199del | |
| XM_011536618.2:c.584+198_584+199del | XP_011534920.1:n.584+198_584+199del | |
| NM_000153.4:c.752+198_752+199del MANE Select | NP_000144.2:n.752+198_752+199del | |
| NM_001201401.2:c.683+198_683+199del | NP_001188330.1:n.683+198_683+199del | |
| NM_001201402.2:c.674+198_674+199del | NP_001188331.1:n.674+198_674+199del |