Linked Data
dbSNP Id:
rs751840879
gnomAD v2:
1-8045231-ACTT-A
gnomAD v3:
1-7985171-ACTT-A
gnomAD v4:
1-7985171-ACTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7985172_7985174del , CM000663.2:g.7985172_7985174del | GRCh38 |
| NC_000001.10:g.8045232_8045234del , CM000663.1:g.8045232_8045234del | GRCh37 |
| NC_000001.9:g.7967819_7967821del | NCBI36 |
| NG_008271.1:g.28519_28521del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338639.10:c.*118_*120del MANE Select | ENSP00000340278.5:n.*118_*120del | |
| ENST00000338639.9:c.*118_*120del | ENSP00000340278.5:n.*118_*120del | |
| ENST00000377491.5:c.*118_*120del | ENSP00000366711.1:n.*118_*120del | |
| ENST00000377493.9:c.*118_*120del | ENSP00000466242.1:n.*118_*120del | |
| ENST00000469225.1:c.601_603del | ENSP00000466756.1:n.601_603del | |
| ENST00000493678.5:c.*118_*120del | ENSP00000418770.1:n.*118_*120del | |
| NM_001123377.1:c.*118_*120del | NP_001116849.1:n.*118_*120del | |
| NM_007262.4:c.*118_*120del | NP_009193.2:n.*118_*120del | |
| XM_005263424.2:c.*118_*120del | XP_005263481.1:n.*118_*120del | |
| XM_005263424.3:c.*118_*120del | XP_005263481.1:n.*118_*120del | |
| NM_007262.5:c.*118_*120del MANE Select | NP_009193.2:n.*118_*120del | |
| NM_001123377.2:c.*118_*120del | NP_001116849.1:n.*118_*120del |