Linked Data
dbSNP Id:
rs1558800245
gnomAD v2:
2-109524513-GGGGGGCTGCAGCCCTGACAA-G
gnomAD v4:
2-108908057-GGGGGGCTGCAGCCCTGACAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108908059_108908078del , CM000664.2:g.108908059_108908078del | GRCh38 |
| NC_000002.11:g.109524515_109524534del , CM000664.1:g.109524515_109524534del | GRCh37 |
| NC_000002.10:g.108890947_108890966del | NCBI36 |
| NG_008257.1:g.86296_86315del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.804-58_804-39del (EDAR) MANE Select | ENSP00000258443.2:n.804-58_804-39del | |
| ENST00000258443.6:c.804-58_804-39del (EDAR) | ENSP00000258443.2:n.804-58_804-39del | |
| ENST00000376651.1:c.900-58_900-39del (EDAR) | ENSP00000365839.1:n.900-58_900-39del | |
| ENST00000409271.5:c.900-58_900-39del (EDAR) | ENSP00000386371.1:n.900-58_900-39del | |
| NM_022336.3:c.804-58_804-39del (EDAR) | NP_071731.1:n.804-58_804-39del | |
| XM_006712204.1:c.900-58_900-39del (EDAR) | XP_006712267.1:n.900-58_900-39del | |
| XM_011510502.1:c.951-58_951-39del (EDAR) | XP_011508804.1:n.951-58_951-39del | |
| XM_011510503.1:c.855-58_855-39del (EDAR) | XP_011508805.1:n.855-58_855-39del | |
| XM_011510504.1:c.231-58_231-39del (EDAR) | XP_011508806.1:n.231-58_231-39del | |
| XM_011510502.2:c.1044-58_1044-39del (EDAR) | XP_011508804.2:n.1044-58_1044-39del | |
| XM_011510503.2:c.948-58_948-39del (EDAR) | XP_011508805.2:n.948-58_948-39del | |
| XM_017004623.2:c.8370+135013_8370+135032del (RANBP2) | XP_016860112.1:n.8370+135013_8370+135032del | |
| NM_022336.4:c.804-58_804-39del (EDAR) MANE Select | NP_071731.1:n.804-58_804-39del |