Linked Data
ClinVar Variation Id:
532547
ClinVar RCV Id:
RCV002234525
dbSNP Id:
rs1553443360
gnomAD v4:
2-108897059-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108897061_108897062del , CM000664.2:g.108897061_108897062del | GRCh38 |
| NC_000002.11:g.109513517_109513518del , CM000664.1:g.109513517_109513518del | GRCh37 |
| NC_000002.10:g.108879949_108879950del | NCBI36 |
| NG_008257.1:g.97312_97313del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.1193_1194del (EDAR) MANE Select | ENSP00000258443.2:p.Phe398Ter | |
| ENST00000258443.6:c.1193_1194del (EDAR) | ENSP00000258443.2:p.Phe398Ter | |
| ENST00000376651.1:c.1289_1290del (EDAR) | ENSP00000365839.1:p.Phe430Ter | |
| ENST00000409271.5:c.1289_1290del (EDAR) | ENSP00000386371.1:p.Phe430Ter | |
| NM_022336.3:c.1193_1194del (EDAR) | NP_071731.1:p.Phe398Ter | |
| XM_006712204.1:c.1289_1290del (EDAR) | XP_006712267.1:p.Phe430Ter | |
| XM_011510502.1:c.1340_1341del (EDAR) | XP_011508804.1:p.Phe447Ter | |
| XM_011510503.1:c.1244_1245del (EDAR) | XP_011508805.1:p.Phe415Ter | |
| XM_011510504.1:c.620_621del (EDAR) | XP_011508806.1:p.Phe207Ter | |
| XM_011510502.2:c.1433_1434del (EDAR) | XP_011508804.2:p.Phe478Ter | |
| XM_011510503.2:c.1337_1338del (EDAR) | XP_011508805.2:p.Phe446Ter | |
| XM_017004623.2:c.8370+124015_8370+124016del (RANBP2) | XP_016860112.1:n.8370+124015_8370+124016del | |
| NM_022336.4:c.1193_1194del (EDAR) MANE Select | NP_071731.1:p.Phe398Ter |