Linked Data
dbSNP Id:
rs147508167
ExAC:
9:111662218 AC / A
gnomAD v2:
9-111662218-AC-A
gnomAD v3:
9-108899938-AC-A
gnomAD v4:
9-108899938-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108899939del , CM000671.2:g.108899939del | GRCh38 |
| NC_000009.11:g.111662219del , CM000671.1:g.111662219del | GRCh37 |
| NC_000009.10:g.110702040del | NCBI36 |
| NG_008788.1:g.39390del , LRG_251:g.39390del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.2131-44del MANE Select | ENSP00000363779.5:n.2131-44del | |
| ENST00000495759.6:c.*741-44del | ENSP00000433514.2:n.*741-44del | |
| ENST00000674535.1:c.2131-44del | ENSP00000502142.1:n.2131-44del | |
| ENST00000674704.1:n.3938-44del | ||
| ENST00000674836.1:n.2436-44del | ||
| ENST00000674890.1:c.2131-44del | ENSP00000501870.1:n.2131-44del | |
| ENST00000674938.1:c.1789-44del | ENSP00000502427.1:n.1789-44del | |
| ENST00000674948.1:c.1789-44del | ENSP00000501602.1:n.1789-44del | |
| ENST00000675052.1:c.2131-44del | ENSP00000502664.1:n.2131-44del | |
| ENST00000675078.1:c.2131-44del | ENSP00000501549.1:n.2131-44del | |
| ENST00000675215.1:c.*1355-44del | ENSP00000502558.1:n.*1355-44del | |
| ENST00000675233.1:n.3958-44del | ||
| ENST00000675321.1:c.2131-44del | ENSP00000502751.1:n.2131-44del | |
| ENST00000675325.1:n.3927-44del | ||
| ENST00000675335.1:c.2162-44del | ENSP00000502182.1:n.2162-44del | |
| ENST00000675400.1:n.3804-44del | ||
| ENST00000675406.1:c.2131-44del | ENSP00000501893.1:n.2131-44del | |
| ENST00000675458.1:c.2224-44del | ENSP00000501754.1:n.2224-44del | |
| ENST00000675507.1:n.3927-44del | ||
| ENST00000675535.1:c.2131-44del | ENSP00000501667.1:n.2131-44del | |
| ENST00000675566.1:n.3927-44del | ||
| ENST00000675602.1:n.5179-44del | ||
| ENST00000675647.1:n.2436-44del | ||
| ENST00000675711.1:c.2131-44del | ENSP00000502485.1:n.2131-44del | |
| ENST00000675727.1:c.2131-44del | ENSP00000501722.1:n.2131-44del | |
| ENST00000675748.1:n.3765-44del | ||
| ENST00000675765.1:c.2131-44del | ENSP00000502640.1:n.2131-44del | |
| ENST00000675825.1:c.2131-44del | ENSP00000502632.1:n.2131-44del | |
| ENST00000675877.1:n.2436-44del | ||
| ENST00000675893.1:c.*3200-44del | ENSP00000502001.1:n.*3200-44del | |
| ENST00000675943.1:n.5746-44del | ||
| ENST00000675979.1:c.*1374-44del | ENSP00000502208.1:n.*1374-44del | |
| ENST00000676044.1:c.2131-44del | ENSP00000502378.1:n.2131-44del | |
| ENST00000676086.1:n.3916-44del | ||
| ENST00000676121.1:n.3959-44del | ||
| ENST00000676237.1:c.2032-44del | ENSP00000501828.1:n.2032-44del | |
| ENST00000676416.1:c.1789-44del | ENSP00000501660.1:n.1789-44del | |
| ENST00000676424.1:n.3927-44del | ||
| ENST00000676429.1:n.6600-44del | ||
| ENST00000374647.9:c.2131-44del | ENSP00000363779.5:n.2131-44del | |
| ENST00000537196.1:c.1084-44del | ENSP00000439367.1:n.1084-44del | |
| NM_003640.3:c.2131-44del , LRG_251t1:c.2131-44del | NP_003631.2:n.2131-44del | |
| XM_005252285.2:c.1789-44del | XP_005252342.1:n.1789-44del | |
| XM_011519136.1:c.2131-44del | XP_011517438.1:n.2131-44del | |
| XM_011519137.1:c.1789-44del | XP_011517439.1:n.1789-44del | |
| XR_929859.1:n.2447-44del | ||
| NM_001318360.1:c.1789-44del | NP_001305289.1:n.1789-44del | |
| NM_001330749.1:c.1084-44del | NP_001317678.1:n.1084-44del | |
| NM_003640.4:c.2131-44del | NP_003631.2:n.2131-44del | |
| XM_011519136.2:c.2131-44del | XP_011517438.1:n.2131-44del | |
| XR_929859.3:n.2458-44del | ||
| NM_003640.5:c.2131-44del MANE Select | NP_003631.2:n.2131-44del | |
| NM_001318360.2:c.1789-44del | NP_001305289.1:n.1789-44del | |
| NM_001330749.2:c.1084-44del | NP_001317678.1:n.1084-44del |