Linked Data
gnomAD v4:
X-43949630-ATC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949638_43949639del , CM000685.2:g.43949638_43949639del | GRCh38 |
| NC_000023.10:g.43808884_43808885del , CM000685.1:g.43808884_43808885del | GRCh37 |
| NC_000023.9:g.43693828_43693829del | NCBI36 |
| NG_009832.1:g.29044_29045del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.*167_*168del MANE Select | ENSP00000495972.1:n.*167_*168del | |
| ENST00000647044.1:c.*167_*168del | ENSP00000495811.1:n.*167_*168del | |
| ENST00000378062.5:c.*167_*168del | ENSP00000367301.5:n.*167_*168del | |
| NM_000266.3:c.*167_*168del | NP_000257.1:n.*167_*168del | |
| NM_000266.4:c.*167_*168del MANE Select | NP_000257.1:n.*167_*168del |