Linked Data
dbSNP Id:
rs1201738158
gnomAD v2:
14-21861750-A-ATCATCC
gnomAD v4:
14-21393591-A-ATCATCC
MyVariant Identifiers:
chr14:g.21861750_21861751insTCATCC (hg19)
chr14:g.21393591_21393592insTCATCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21393600_21393605dup , CM000676.2:g.21393600_21393605dup | GRCh38 |
| NC_000014.8:g.21861759_21861764dup , CM000676.1:g.21861759_21861764dup | GRCh37 |
| NC_000014.7:g.20931599_20931604dup | NCBI36 |
| NG_021249.1:g.48702_48707dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.5361_5366dup | ENSP00000406288.3:p.Asp1788_Asp1789insGluAsp | |
| ENST00000555935.2:c.3898_3903dup | ||
| ENST00000557364.6:c.6198_6203dup | ENSP00000451601.1:p.Asp2067_Asp2068insGluAsp | |
| ENST00000643469.1:c.6198_6203dup | ENSP00000495070.1:p.Asp2067_Asp2068insGluAsp | |
| ENST00000645206.1:n.5354_5359dup | ||
| ENST00000645929.1:c.5361_5366dup | ENSP00000494402.1:p.Asp1788_Asp1789insGluAsp | |
| ENST00000646647.2:c.6198_6203dup MANE Select | ENSP00000495240.1:p.Asp2067_Asp2068insGluAsp | |
| ENST00000399982.6:c.6198_6203dup | ENSP00000382863.2:p.Asp2067_Asp2068insGluAsp | |
| ENST00000430710.7:c.5361_5366dup | ENSP00000406288.3:p.Asp1788_Asp1789insGluAsp | |
| ENST00000557364.5:c.6198_6203dup | ENSP00000451601.1:p.Asp2067_Asp2068insGluAsp | |
| NM_001170629.1:c.6198_6203dup | NP_001164100.1:p.Asp2067_Asp2068insGluAsp | |
| NM_020920.3:c.5361_5366dup | NP_065971.2:p.Asp1788_Asp1789insGluAsp | |
| NM_001170629.2:c.6198_6203dup MANE Select | NP_001164100.1:p.Asp2067_Asp2068insGluAsp | |
| NM_020920.4:c.5361_5366dup | NP_065971.2:p.Asp1788_Asp1789insGluAsp |