Linked Data
dbSNP Id:
rs568822384
ExAC:
10:5141085 GGA / G
gnomAD v2:
10-5141085-GGA-G
gnomAD v3:
10-5098893-GGA-G
gnomAD v4:
10-5098893-GGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.5098897_5098898del , CM000672.2:g.5098897_5098898del | GRCh38 |
| NC_000010.10:g.5141089_5141090del , CM000672.1:g.5141089_5141090del | GRCh37 |
| NC_000010.9:g.5131089_5131090del | NCBI36 |
| NG_047094.1:g.55132_55133del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380554.5:c.447+18_447+19del (AKR1C3) MANE Select | ENSP00000369927.3:n.447+18_447+19del | |
| ENST00000380554.4:c.447+18_447+19del (AKR1C3) | ENSP00000369927.3:n.447+18_447+19del | |
| ENST00000407674.5:c.180+33779_180+33780del (AKR1C2) | ENSP00000385221.2:n.180+33779_180+33780del | |
| ENST00000434459.6:c.933-8564_933-8563del (AKR1C1) | ENSP00000412248.3:n.933-8564_933-8563del | |
| ENST00000439082.7:c.447+18_447+19del | ENSP00000401327.3:n.447+18_447+19del | |
| ENST00000602997.5:c.378+18_378+19del (AKR1C3) | ENSP00000474188.1:n.378+18_378+19del | |
| ENST00000605149.5:c.378+18_378+19del (AKR1C3) | ENSP00000474882.1:n.378+18_378+19del | |
| ENST00000605322.1:n.280-430_280-429del (AKR1C3) | ||
| ENST00000605781.5:n.626+18_626+19del (AKR1C3) | ||
| NM_001253908.1:c.447+18_447+19del (AKR1C3) | NP_001240837.1:n.447+18_447+19del | |
| NM_003739.5:c.447+18_447+19del (AKR1C3) | NP_003730.4:n.447+18_447+19del | |
| NM_003739.6:c.447+18_447+19del (AKR1C3) MANE Select | NP_003730.4:n.447+18_447+19del | |
| NM_001253908.2:c.447+18_447+19del (AKR1C3) | NP_001240837.1:n.447+18_447+19del |