Linked Data
dbSNP Id:
rs1368910652
gnomAD v2:
3-121972958-AC-A
gnomAD v3:
3-122254111-AC-A
gnomAD v4:
3-122254111-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122254112del , CM000665.2:g.122254112del | GRCh38 |
| NC_000003.11:g.121972959del , CM000665.1:g.121972959del | GRCh37 |
| NC_000003.10:g.123455649del | NCBI36 |
| NG_009058.1:g.75430del | |
| NG_009058.2:g.75445del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.-78del | ENSP00000418685.2:n.-78del | |
| ENST00000498619.4:c.-78del | ENSP00000420194.1:n.-78del | |
| ENST00000638421.1:c.-78del | ENSP00000492190.1:n.-78del | |
| ENST00000639785.2:c.-78del MANE Select | ENSP00000491584.2:n.-78del | |
| ENST00000490131.5:c.-78del | ENSP00000418685.1:n.-78del | |
| ENST00000498619.2:c.-78del | ENSP00000420194.1:n.-78del | |
| NM_000388.3:c.-78del | NP_000379.2:n.-78del | |
| NM_001178065.1:c.-78del | NP_001171536.1:n.-78del | |
| XM_005247836.2:c.-78del | XP_005247893.1:n.-78del | |
| XM_006713789.2:c.-78del | XP_006713852.1:n.-78del | |
| XM_011513237.1:c.-78del | XP_011511539.1:n.-78del | |
| XM_011513238.1:c.-78del | XP_011511540.1:n.-78del | |
| XM_006713789.3:c.-78del | XP_006713852.1:n.-78del | |
| XM_017007324.1:c.-78del | XP_016862813.1:n.-78del | |
| XM_017007325.1:c.-78del | XP_016862814.1:n.-78del | |
| NM_000388.4:c.-78del MANE Select | NP_000379.3:n.-78del | |
| NM_001178065.2:c.-78del | NP_001171536.2:n.-78del |