Linked Data
gnomAD v4:
3-81649060-ATTTTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81649061_81649065del , CM000665.2:g.81649061_81649065del | GRCh38 |
| NC_000003.11:g.81698212_81698216del , CM000665.1:g.81698212_81698216del | GRCh37 |
| NC_000003.10:g.81780902_81780906del | NCBI36 |
| NG_011810.1:g.117736_117740del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.556-74_556-70del MANE Select | ENSP00000410833.2:n.556-74_556-70del | |
| ENST00000429644.6:c.556-74_556-70del | ENSP00000410833.2:n.556-74_556-70del | |
| ENST00000486920.1:n.552-74_552-70del | ||
| ENST00000489715.1:c.433-74_433-70del | ENSP00000419638.1:n.433-74_433-70del | |
| ENST00000498468.1:n.84-74_84-70del | ||
| NM_000158.3:c.556-74_556-70del | NP_000149.3:n.556-74_556-70del | |
| NM_000158.4:c.556-74_556-70del MANE Select | NP_000149.4:n.556-74_556-70del |