Linked Data
dbSNP Id:
rs1194970506
gnomAD v2:
12-10170209-AT-A
gnomAD v3:
12-10017610-AT-A
gnomAD v4:
12-10017610-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10017613del , CM000674.2:g.10017613del | GRCh38 |
| NC_000012.11:g.10170212del , CM000674.1:g.10170212del | GRCh37 |
| NC_000012.10:g.10061479del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338896.11:c.681-718del MANE Select | ENSP00000344563.5:n.681-718del | |
| ENST00000338896.10:c.681-718del | ENSP00000344563.5:n.681-718del | |
| ENST00000338896.9:c.681-718del | ENSP00000344563.5:n.681-718del | |
| ENST00000396502.5:c.*1867del | ENSP00000379759.1:n.*1867del | |
| ENST00000539155.1:c.*2360del | ENSP00000444909.1:n.*2360del | |
| ENST00000544853.5:c.*129-718del | ENSP00000439561.1:n.*129-718del | |
| NM_001129998.1:c.681-718del | NP_001123470.1:n.681-718del | |
| NM_205852.2:c.*1867del | NP_995324.2:n.*1867del | |
| NR_120484.1:n.249-1838del | ||
| XM_006719070.2:c.681-805del | XP_006719133.1:n.681-805del | |
| XM_006719071.2:c.*3-718del | XP_006719134.1:n.*3-718del | |
| XM_006719072.1:c.*640del | XP_006719135.1:n.*640del | |
| XM_011520658.1:c.654-718del | XP_011518960.1:n.654-718del | |
| XM_011520659.1:c.*616del | XP_011518961.1:n.*616del | |
| XM_011520660.1:c.*611del | XP_011518962.1:n.*611del | |
| XM_011520661.1:c.*10-718del | XP_011518963.1:n.*10-718del | |
| XM_011520662.1:c.*647del | XP_011518964.1:n.*647del | |
| XM_011520663.1:c.526-718del | XP_011518965.1:n.526-718del | |
| XM_011520664.1:c.526-805del | XP_011518966.1:n.526-805del | |
| XR_242889.3:n.956-718del | ||
| XR_931290.1:n.1593del | ||
| NM_001129998.2:c.681-718del | NP_001123470.1:n.681-718del | |
| NM_001319241.1:c.372-718del | NP_001306170.1:n.372-718del | |
| NM_001319242.1:c.*1867del | NP_001306171.1:n.*1867del | |
| NM_205852.3:c.*1867del | NP_995324.2:n.*1867del | |
| NR_135049.1:n.961-718del | ||
| XM_011520658.2:c.654-718del | XP_011518960.1:n.654-718del | |
| XM_011520663.2:c.526-718del | XP_011518965.1:n.526-718del | |
| XM_017019295.1:c.372-718del | XP_016874784.1:n.372-718del | |
| XM_024448976.1:c.681-805del | XP_024304744.1:n.681-805del | |
| XM_024448977.1:c.*1874del | XP_024304745.1:n.*1874del | |
| XR_002957401.1:n.106-1463del | ||
| NM_001129998.3:c.681-718del MANE Select | NP_001123470.1:n.681-718del | |
| NM_001387138.1:c.681-805del | NP_001374067.1:n.681-805del | |
| NR_169587.1:n.258-1463del |