Linked Data
ClinVar Variation Id:
305046
ClinVar RCV Id:
RCV000377285
dbSNP Id:
rs369988724
gnomAD v2:
11-61129510-TCTC-T
gnomAD v3:
11-61362038-TCTC-T
gnomAD v4:
11-61362038-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61362040_61362042del , CM000673.2:g.61362040_61362042del | GRCh38 |
| NC_000011.9:g.61129512_61129514del , CM000673.1:g.61129512_61129514del | GRCh37 |
| NC_000011.8:g.60886088_60886090del | NCBI36 |
| NG_032581.1:g.5040_5042del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542946.2:c.-520_-518del (TMEM138) | ENSP00000445792.1:n.-520_-518del | |
| ENST00000689076.1:c.-520_-518del (TMEM138) | ENSP00000508469.1:n.-520_-518del | |
| ENST00000278826.10:c.-520_-518del (TMEM138) | ENSP00000278826.5:n.-520_-518del | |
| ENST00000294072.8:c.-420_-418del (CYB561A3) | ENSP00000294072.3:n.-420_-418del | |
| ENST00000426130.6:c.-538_-536del (CYB561A3) | ENSP00000398979.2:n.-538_-536del | |
| ENST00000535152.1:n.208_210del (CYB561A3) | ||
| ENST00000536687.1:n.231_233del (CYB561A3) | ||
| ENST00000537680.5:c.-233_-231del (CYB561A3) | ENSP00000439702.1:n.-233_-231del | |
| NM_001161454.1:c.-538_-536del (CYB561A3) | NP_001154926.1:n.-538_-536del | |
| NM_001300763.1:c.-420_-418del (CYB561A3) | NP_001287692.1:n.-420_-418del | |
| NM_016464.4:c.-520_-518del (TMEM138) | NP_057548.1:n.-520_-518del | |
| NM_153611.4:c.-420_-418del (CYB561A3) | NP_705839.3:n.-420_-418del | |
| NR_028473.1:n.40_42del (TMEM138) | ||
| XM_011544821.1:c.-538_-536del (CYB561A3) | XP_011543123.1:n.-538_-536del | |
| XM_011544822.1:c.-566_-564del (CYB561A3) | XP_011543124.1:n.-566_-564del | |
| XM_011544823.1:c.-324_-322del (CYB561A3) | XP_011543125.1:n.-324_-322del | |
| XM_011544824.1:c.-538_-536del (CYB561A3) | XP_011543126.1:n.-538_-536del | |
| XM_011544825.1:c.-966_-964del (CYB561A3) | XP_011543127.1:n.-966_-964del | |
| XR_949828.1:n.259_261del (CYB561A3) | ||
| NM_001330281.1:c.-491_-489del (TMEM138) | NP_001317210.1:n.-491_-489del | |
| XM_011544821.2:c.-538_-536del (CYB561A3) | XP_011543123.1:n.-538_-536del | |
| XM_024448398.1:c.-538_-536del (CYB561A3) | XP_024304166.1:n.-538_-536del | |
| XM_024448399.1:c.-538_-536del (CYB561A3) | XP_024304167.1:n.-538_-536del |