Linked Data
dbSNP Id:
rs1858603901
gnomAD v3:
11-22859109-AGAGACCTTAG-A
gnomAD v4:
11-22859109-AGAGACCTTAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22859113_22859122del , CM000673.2:g.22859113_22859122del | GRCh38 |
| NC_000011.9:g.22880659_22880668del , CM000673.1:g.22880659_22880668del | GRCh37 |
| NC_000011.8:g.22837235_22837244del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532798.3:c.90+333_90+342del (CCDC179) MANE Select | ENSP00000457511.1:n.90+333_90+342del | |
| ENST00000532798.2:c.90+333_90+342del (CCDC179) | ENSP00000457511.1:n.90+333_90+342del | |
| NM_001195637.1:c.90+333_90+342del (CCDC179) | NP_001182566.1:n.90+333_90+342del | |
| XM_011519802.1:c.90+333_90+342del (CCDC179) | XP_011518104.1:n.90+333_90+342del | |
| XM_011519803.1:c.90+333_90+342del (CCDC179) | XP_011518105.1:n.90+333_90+342del | |
| XM_011519804.1:c.90+333_90+342del (CCDC179) | XP_011518106.1:n.90+333_90+342del | |
| XR_931120.1:n.430+20749_430+20758del | ||
| XR_931122.1:n.431-4800_431-4791del | ||
| XR_931123.1:n.361+20749_361+20758del | ||
| XM_011519802.2:c.90+333_90+342del (CCDC179) | XP_011518104.1:n.90+333_90+342del | |
| XM_011519803.2:c.90+333_90+342del (CCDC179) | XP_011518105.1:n.90+333_90+342del | |
| XR_001747829.1:n.1323+20749_1323+20758del (GAS2) | ||
| NM_001195637.2:c.90+333_90+342del (CCDC179) MANE Select | NP_001182566.1:n.90+333_90+342del |