Linked Data
dbSNP Id:
rs781368432
ExAC:
15:75012818 GCT / G
gnomAD v2:
15-75012818-GCT-G
gnomAD v4:
15-74720477-GCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74720481_74720482del , CM000677.2:g.74720481_74720482del | GRCh38 |
| NC_000015.9:g.75012822_75012823del , CM000677.1:g.75012822_75012823del | GRCh37 |
| NC_000015.8:g.72799875_72799876del | NCBI36 |
| NG_008431.1:g.2940_2941del | |
| NG_008431.2:g.2940_2941del | |
| NG_061374.1:g.10050_10051del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379727.8:c.*10_*11del MANE Select | ENSP00000369050.3:n.*10_*11del | |
| ENST00000379727.7:c.*10_*11del | ENSP00000369050.3:n.*10_*11del | |
| ENST00000395048.6:c.*10_*11del | ENSP00000378488.2:n.*10_*11del | |
| ENST00000395049.8:c.*10_*11del | ENSP00000378489.4:n.*10_*11del | |
| ENST00000567032.5:c.*10_*11del | ENSP00000456585.1:n.*10_*11del | |
| ENST00000612821.4:c.1465_1466del | ENSP00000479744.1:n.1465_1466del | |
| ENST00000617691.4:c.*10_*11del | ENSP00000482863.1:n.*10_*11del | |
| NM_000499.3:c.*10_*11del | NP_000490.1:n.*10_*11del | |
| XM_005254185.1:c.*10_*11del | XP_005254242.1:n.*10_*11del | |
| NM_000499.5:c.*10_*11del | NP_000490.1:n.*10_*11del | |
| NM_001319216.2:c.*10_*11del | NP_001306145.1:n.*10_*11del | |
| NM_001319217.2:c.*10_*11del MANE Select | NP_001306146.1:n.*10_*11del |