Linked Data
dbSNP Id:
rs765646513
gnomAD v2:
13-42505728-AC-A
gnomAD v3:
13-41931592-AC-A
gnomAD v4:
13-41931592-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.41931593del , CM000675.2:g.41931593del | GRCh38 |
| NC_000013.10:g.42505729del , CM000675.1:g.42505729del | GRCh37 |
| NC_000013.9:g.41403729del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379310.8:c.241+18343del MANE Select | ENSP00000368612.3:n.241+18343del | |
| ENST00000281496.6:c.241+18343del | ENSP00000281496.6:n.241+18343del | |
| ENST00000379310.7:c.241+18343del | ENSP00000368612.3:n.241+18343del | |
| NM_001009814.1:c.241+18343del | NP_001009814.1:n.241+18343del | |
| NM_015058.1:c.241+18343del | NP_055873.1:n.241+18343del | |
| XM_011535006.1:c.-48+18343del | XP_011533308.1:n.-48+18343del | |
| XM_011535007.1:c.241+18343del | XP_011533309.1:n.241+18343del | |
| XM_011535007.3:c.241+18343del | XP_011533309.1:n.241+18343del | |
| XM_017020469.2:c.58+5722del | XP_016875958.1:n.58+5722del | |
| XM_017020470.2:c.241+18343del | XP_016875959.1:n.241+18343del | |
| XM_017020471.2:c.241+18343del | XP_016875960.1:n.241+18343del | |
| XM_017020474.2:c.241+18343del | XP_016875963.1:n.241+18343del | |
| XR_001749518.2:n.972+18343del | ||
| NM_015058.2:c.241+18343del MANE Select | NP_055873.1:n.241+18343del | |
| NM_001009814.2:c.241+18343del | NP_001009814.1:n.241+18343del |