Linked Data
dbSNP Id:
rs1437022135
gnomAD v2:
1-242053039-ATTAAC-A
gnomAD v3:
1-241889737-ATTAAC-A
gnomAD v4:
1-241889737-ATTAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241889740_241889744del , CM000663.2:g.241889740_241889744del | GRCh38 |
| NC_000001.10:g.242053042_242053046del , CM000663.1:g.242053042_242053046del | GRCh37 |
| NC_000001.9:g.240119665_240119669del | NCBI36 |
| NG_029100.1:g.46550_46554del | |
| NG_029100.2:g.46550_46554del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366548.8:c.*140_*144del MANE Select | ENSP00000355506.3:n.*140_*144del | |
| ENST00000348581.9:c.*140_*144del | ENSP00000311873.5:n.*140_*144del | |
| ENST00000366548.7:c.*140_*144del | ENSP00000355506.3:n.*140_*144del | |
| ENST00000518483.5:c.*267_*271del | ENSP00000430251.1:n.*267_*271del | |
| ENST00000518741.1:n.152-2784_152-2780del | ||
| NM_003686.4:c.*267_*271del | NP_003677.4:n.*267_*271del | |
| NM_006027.4:c.*140_*144del | NP_006018.4:n.*140_*144del | |
| NM_130398.3:c.*140_*144del | NP_569082.2:n.*140_*144del | |
| XM_005273350.2:c.*140_*144del | XP_005273407.1:n.*140_*144del | |
| XM_006711840.1:c.*140_*144del | XP_006711903.1:n.*140_*144del | |
| XM_011544321.1:c.*140_*144del | XP_011542623.1:n.*140_*144del | |
| XM_011544322.1:c.*140_*144del | XP_011542624.1:n.*140_*144del | |
| XM_011544323.1:c.*140_*144del | XP_011542625.1:n.*140_*144del | |
| XM_011544324.1:c.*140_*144del | XP_011542626.1:n.*140_*144del | |
| XM_011544325.1:c.*140_*144del | XP_011542627.1:n.*140_*144del | |
| XR_949162.1:n.2990+4233_2990+4237del | ||
| NM_001319224.1:c.*140_*144del | NP_001306153.1:n.*140_*144del | |
| XM_006711840.2:c.*140_*144del | XP_006711903.1:n.*140_*144del | |
| XM_011544321.2:c.*140_*144del | XP_011542623.1:n.*140_*144del | |
| XM_011544323.2:c.*140_*144del | XP_011542625.1:n.*140_*144del | |
| XM_011544324.2:c.*140_*144del | XP_011542626.1:n.*140_*144del | |
| XM_011544325.2:c.*140_*144del | XP_011542627.1:n.*140_*144del | |
| XM_017002793.2:c.*140_*144del | XP_016858282.1:n.*140_*144del | |
| NM_130398.4:c.*140_*144del MANE Select | NP_569082.2:n.*140_*144del | |
| NM_001319224.2:c.*140_*144del | NP_001306153.1:n.*140_*144del |