Linked Data
gnomAD v4:
11-640342-GGGGGGGGGTACGAGGCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.640345_640361del , CM000673.2:g.640345_640361del | GRCh38 |
| NC_000011.9:g.640345_640361del , CM000673.1:g.640345_640361del | GRCh37 |
| NC_000011.8:g.630345_630361del | NCBI36 |
| NG_021241.1:g.8041_8057del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176183.6:c.1057+39_1058-40del MANE Select | ENSP00000176183.5:n.1057+39_1058-40del | |
| ENST00000176183.5:c.1057+39_1058-40del | ENSP00000176183.5:n.1057+39_1058-40del | |
| NM_000797.3:c.1057+39_1058-40del | NP_000788.2:n.1057+39_1058-40del | |
| NM_000797.4:c.1057+39_1058-40del MANE Select | NP_000788.2:n.1057+39_1058-40del |