Linked Data
dbSNP Id:
rs1365064540
gnomAD v3:
14-21429032-TCTGAGC-T
gnomAD v4:
14-21429032-TCTGAGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21429036_21429041del , CM000676.2:g.21429036_21429041del | GRCh38 |
| NC_000014.8:g.21897195_21897200del , CM000676.1:g.21897195_21897200del | GRCh37 |
| NC_000014.7:g.20967035_20967040del | NCBI36 |
| NG_021249.1:g.13261_13266del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.304_309del | ENSP00000406288.3:p.Ala102_Gln103del | |
| ENST00000553651.2:n.2947_2952del | ||
| ENST00000555962.6:c.-111+2773_-111+2778del | ENSP00000495174.1:n.-111+2773_-111+2778del | |
| ENST00000557364.6:c.1141_1146del | ENSP00000451601.1:p.Ala381_Gln382del | |
| ENST00000642518.1:c.304_309del | ENSP00000496722.1:p.Ala102_Gln103del | |
| ENST00000643048.1:n.1436_1441del | ||
| ENST00000643469.1:c.1141_1146del | ENSP00000495070.1:p.Ala381_Gln382del | |
| ENST00000645140.1:c.1053_1058del | ||
| ENST00000645929.1:c.304_309del | ENSP00000494402.1:p.Ala102_Gln103del | |
| ENST00000646063.1:c.1228_1233del | ENSP00000496565.1:p.Ala410_Gln411del | |
| ENST00000646340.1:c.1147_1152del | ENSP00000496730.1:p.Ala383_Gln384del | |
| ENST00000646647.2:c.1141_1146del MANE Select | ENSP00000495240.1:p.Ala381_Gln382del | |
| ENST00000399982.6:c.1141_1146del | ENSP00000382863.2:p.Ala381_Gln382del | |
| ENST00000430710.7:c.304_309del | ENSP00000406288.3:p.Ala102_Gln103del | |
| ENST00000555962.5:n.150+2773_150+2778del | ||
| ENST00000557364.5:c.1141_1146del | ENSP00000451601.1:p.Ala381_Gln382del | |
| NM_001170629.1:c.1141_1146del | NP_001164100.1:p.Ala381_Gln382del | |
| NM_020920.3:c.304_309del | NP_065971.2:p.Ala102_Gln103del | |
| NM_001170629.2:c.1141_1146del MANE Select | NP_001164100.1:p.Ala381_Gln382del | |
| NM_020920.4:c.304_309del | NP_065971.2:p.Ala102_Gln103del |