Linked Data
dbSNP Id:
rs756195290
gnomAD v2:
1-8045263-CAG-C
gnomAD v3:
1-7985203-CAG-C
gnomAD v4:
1-7985203-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7985207_7985208del , CM000663.2:g.7985207_7985208del | GRCh38 |
| NC_000001.10:g.8045267_8045268del , CM000663.1:g.8045267_8045268del | GRCh37 |
| NC_000001.9:g.7967854_7967855del | NCBI36 |
| NG_008271.1:g.28554_28555del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338639.10:c.*153_*154del MANE Select | ENSP00000340278.5:n.*153_*154del | |
| ENST00000338639.9:c.*153_*154del | ENSP00000340278.5:n.*153_*154del | |
| ENST00000377491.5:c.*153_*154del | ENSP00000366711.1:n.*153_*154del | |
| ENST00000377493.9:c.*153_*154del | ENSP00000466242.1:n.*153_*154del | |
| ENST00000469225.1:c.636_637del | ENSP00000466756.1:n.636_637del | |
| ENST00000493678.5:c.*153_*154del | ENSP00000418770.1:n.*153_*154del | |
| NM_001123377.1:c.*153_*154del | NP_001116849.1:n.*153_*154del | |
| NM_007262.4:c.*153_*154del | NP_009193.2:n.*153_*154del | |
| XM_005263424.2:c.*153_*154del | XP_005263481.1:n.*153_*154del | |
| XM_005263424.3:c.*153_*154del | XP_005263481.1:n.*153_*154del | |
| NM_007262.5:c.*153_*154del MANE Select | NP_009193.2:n.*153_*154del | |
| NM_001123377.2:c.*153_*154del | NP_001116849.1:n.*153_*154del |