Linked Data
dbSNP Id:
rs1023147621
gnomAD v2:
4-56301293-GCTT-G
gnomAD v3:
4-55435126-GCTT-G
gnomAD v4:
4-55435126-GCTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55435130_55435132del , CM000666.2:g.55435130_55435132del | GRCh38 |
| NC_000004.11:g.56301297_56301299del , CM000666.1:g.56301297_56301299del | GRCh37 |
| NC_000004.10:g.55996054_55996056del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000513440.6:c.*286_*288del (CLOCK) MANE Select | ENSP00000426983.1:n.*286_*288del | |
| ENST00000309964.8:c.*286_*288del (CLOCK) | ENSP00000308741.4:n.*286_*288del | |
| ENST00000381322.5:c.*286_*288del (CLOCK) | ENSP00000370723.1:n.*286_*288del | |
| ENST00000506103.2:c.352+10487_352+10489del (TMEM165) | ||
| ENST00000511124.1:n.1279_1281del (CLOCK) | ||
| ENST00000513440.5:c.*286_*288del (CLOCK) | ENSP00000426983.1:n.*286_*288del | |
| ENST00000608091.1:c.408+10487_408+10489del (TMEM165) | ||
| NM_001267843.1:c.*286_*288del (CLOCK) | NP_001254772.1:n.*286_*288del | |
| NM_004898.3:c.*286_*288del (CLOCK) | NP_004889.1:n.*286_*288del | |
| XM_005265787.1:c.*286_*288del (CLOCK) | XP_005265844.1:n.*286_*288del | |
| XM_006714054.2:c.*286_*288del (CLOCK) | XP_006714117.1:n.*286_*288del | |
| XM_011534394.1:c.898+10487_898+10489del (TMEM165) | XP_011532696.1:n.898+10487_898+10489del | |
| XM_011534409.1:c.*286_*288del (CLOCK) | XP_011532711.1:n.*286_*288del | |
| XM_011534410.1:c.*286_*288del (CLOCK) | XP_011532712.1:n.*286_*288del | |
| XM_011534411.1:c.*286_*288del (CLOCK) | XP_011532713.1:n.*286_*288del | |
| XM_005265787.2:c.*286_*288del (CLOCK) | XP_005265844.1:n.*286_*288del | |
| XM_011534394.3:c.898+10487_898+10489del (TMEM165) | XP_011532696.1:n.898+10487_898+10489del | |
| XM_011534409.2:c.*286_*288del (CLOCK) | XP_011532711.1:n.*286_*288del | |
| XM_011534410.2:c.*286_*288del (CLOCK) | XP_011532712.1:n.*286_*288del | |
| XM_011534411.2:c.*286_*288del (CLOCK) | XP_011532713.1:n.*286_*288del | |
| XM_017008854.1:c.*286_*288del (CLOCK) | XP_016864343.1:n.*286_*288del | |
| XM_017008855.1:c.*286_*288del (CLOCK) | XP_016864344.1:n.*286_*288del | |
| XM_024454284.1:c.*286_*288del (CLOCK) | XP_024310052.1:n.*286_*288del | |
| NM_004898.4:c.*286_*288del (CLOCK) MANE Select | NP_004889.1:n.*286_*288del | |
| NM_001267843.2:c.*286_*288del (CLOCK) | NP_001254772.1:n.*286_*288del |