Linked Data
dbSNP Id:
rs1558799860
gnomAD v2:
2-109524138-GT-G
gnomAD v3:
2-108907682-GT-G
gnomAD v4:
2-108907682-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108907689del , CM000664.2:g.108907689del | GRCh38 |
| NC_000002.11:g.109524145del , CM000664.1:g.109524145del | GRCh37 |
| NC_000002.10:g.108890577del | NCBI36 |
| NG_008257.1:g.86690del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.963+177del (EDAR) MANE Select | ENSP00000258443.2:n.963+177del | |
| ENST00000258443.6:c.963+177del (EDAR) | ENSP00000258443.2:n.963+177del | |
| ENST00000376651.1:c.1059+177del (EDAR) | ENSP00000365839.1:n.1059+177del | |
| ENST00000409271.5:c.1059+177del (EDAR) | ENSP00000386371.1:n.1059+177del | |
| NM_022336.3:c.963+177del (EDAR) | NP_071731.1:n.963+177del | |
| XM_006712204.1:c.1059+177del (EDAR) | XP_006712267.1:n.1059+177del | |
| XM_011510502.1:c.1110+177del (EDAR) | XP_011508804.1:n.1110+177del | |
| XM_011510503.1:c.1014+177del (EDAR) | XP_011508805.1:n.1014+177del | |
| XM_011510504.1:c.390+177del (EDAR) | XP_011508806.1:n.390+177del | |
| XM_011510502.2:c.1203+177del (EDAR) | XP_011508804.2:n.1203+177del | |
| XM_011510503.2:c.1107+177del (EDAR) | XP_011508805.2:n.1107+177del | |
| XM_017004623.2:c.8370+134643del (RANBP2) | XP_016860112.1:n.8370+134643del | |
| NM_022336.4:c.963+177del (EDAR) MANE Select | NP_071731.1:n.963+177del |