Linked Data
dbSNP Id:
rs911260475
gnomAD v2:
19-33791369-TCGTGTTC-T
gnomAD v3:
19-33300463-TCGTGTTC-T
gnomAD v4:
19-33300463-TCGTGTTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33300465_33300471del , CM000681.2:g.33300465_33300471del | GRCh38 |
| NC_000019.9:g.33791371_33791377del , CM000681.1:g.33791371_33791377del | GRCh37 |
| NC_000019.8:g.38483211_38483217del | NCBI36 |
| NG_012022.1:g.7055_7061del , LRG_456:g.7055_7061del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.*868_*874del MANE Select | ENSP00000427514.1:n.*868_*874del | |
| ENST00000498907.2:c.*868_*874del | ENSP00000427514.1:n.*868_*874del | |
| NM_001285829.1:c.*868_*874del | NP_001272758.1:n.*868_*874del | |
| NM_001287424.1:c.*868_*874del | NP_001274353.1:n.*868_*874del | |
| NM_001287435.1:c.*868_*874del | NP_001274364.1:n.*868_*874del | |
| NM_004364.4:c.*868_*874del | NP_004355.2:n.*868_*874del | |
| NM_001287424.2:c.*868_*874del | NP_001274353.1:n.*868_*874del | |
| NM_004364.5:c.*868_*874del MANE Select | NP_004355.2:n.*868_*874del | |
| NM_001285829.2:c.*868_*874del | NP_001272758.1:n.*868_*874del | |
| NM_001287435.2:c.*868_*874del | NP_001274364.1:n.*868_*874del |