Linked Data
ClinVar Variation Id:
1268096
ClinVar RCV Id:
RCV001672376
dbSNP Id:
rs34695967
gnomAD v2:
14-21883665-AAAATAAAT-A
gnomAD v3:
14-21415506-AAAATAAAT-A
gnomAD v4:
14-21415506-AAAATAAAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21415538_21415545del , CM000676.2:g.21415538_21415545del | GRCh38 |
| NC_000014.8:g.21883697_21883704del , CM000676.1:g.21883697_21883704del | GRCh37 |
| NC_000014.7:g.20953537_20953544del | NCBI36 |
| NG_021249.1:g.26785_26792del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.1131+60_1131+67del | ENSP00000406288.3:n.1131+60_1131+67del | |
| ENST00000555962.6:c.-110-12472_-110-12465del | ENSP00000495174.1:n.-110-12472_-110-12465del | |
| ENST00000557364.6:c.1968+60_1968+67del | ENSP00000451601.1:n.1968+60_1968+67del | |
| ENST00000642914.1:n.1011_1018del | ||
| ENST00000643469.1:c.1968+60_1968+67del | ENSP00000495070.1:n.1968+60_1968+67del | |
| ENST00000645140.1:c.1880+60_1880+67del | ||
| ENST00000645206.1:n.482+60_482+67del | ||
| ENST00000645929.1:c.1131+60_1131+67del | ENSP00000494402.1:n.1131+60_1131+67del | |
| ENST00000646340.1:c.1974+60_1974+67del | ENSP00000496730.1:n.1974+60_1974+67del | |
| ENST00000646647.2:c.1968+60_1968+67del MANE Select | ENSP00000495240.1:n.1968+60_1968+67del | |
| ENST00000399982.6:c.1968+60_1968+67del | ENSP00000382863.2:n.1968+60_1968+67del | |
| ENST00000430710.7:c.1131+60_1131+67del | ENSP00000406288.3:n.1131+60_1131+67del | |
| ENST00000555962.5:n.151-12472_151-12465del | ||
| ENST00000557364.5:c.1968+60_1968+67del | ENSP00000451601.1:n.1968+60_1968+67del | |
| NM_001170629.1:c.1968+60_1968+67del | NP_001164100.1:n.1968+60_1968+67del | |
| NM_020920.3:c.1131+60_1131+67del | NP_065971.2:n.1131+60_1131+67del | |
| NM_001170629.2:c.1968+60_1968+67del MANE Select | NP_001164100.1:n.1968+60_1968+67del | |
| NM_020920.4:c.1131+60_1131+67del | NP_065971.2:n.1131+60_1131+67del |