Linked Data
gnomAD v3:
2-31074480-CCTGGGCTGGGCGGGTTGAT-C
gnomAD v4:
2-31074480-CCTGGGCTGGGCGGGTTGAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31074492_31074510del , CM000664.2:g.31074492_31074510del | GRCh38 |
| NC_000002.11:g.31297358_31297376del , CM000664.1:g.31297358_31297376del | GRCh37 |
| NC_000002.10:g.31150862_31150880del | NCBI36 |
| NG_051040.1:g.69228_69246del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349752.10:c.129+63459_129+63477del MANE Select | ENSP00000288988.6:n.129+63459_129+63477del | |
| ENST00000324589.9:c.314+40244_314+40262del | ENSP00000314500.5:n.314+40244_314+40262del | |
| ENST00000349752.9:c.129+63459_129+63477del | ENSP00000288988.6:n.129+63459_129+63477del | |
| ENST00000406653.5:c.69+40244_69+40262del | ENSP00000385435.1:n.69+40244_69+40262del | |
| ENST00000424136.5:c.181+58131_181+58149del | ||
| ENST00000430167.1:c.129+63459_129+63477del | ENSP00000406399.1:n.129+63459_129+63477del | |
| ENST00000455477.5:c.198+50655_198+50673del | ||
| ENST00000461193.5:n.164+50655_164+50673del | ||
| ENST00000464038.5:n.388+72423_388+72441del | ||
| ENST00000485468.1:n.290+4435_290+4453del | ||
| ENST00000490212.5:n.364+54778_364+54796del | ||
| ENST00000496397.5:n.202-1324_202-1306del | ||
| ENST00000498206.5:n.358+40244_358+40262del | ||
| NM_001253826.1:c.314+40244_314+40262del | NP_001240755.1:n.314+40244_314+40262del | |
| NM_001253827.1:c.69+40244_69+40262del | NP_001240756.1:n.69+40244_69+40262del | |
| NM_024572.3:c.129+63459_129+63477del | NP_078848.2:n.129+63459_129+63477del | |
| NR_045602.1:n.902+4435_902+4453del | ||
| XM_011533104.1:c.447+4435_447+4453del | XP_011531406.1:n.447+4435_447+4453del | |
| XM_011533105.1:c.69+40244_69+40262del | XP_011531407.1:n.69+40244_69+40262del | |
| XM_011533106.1:c.42+72423_42+72441del | XP_011531408.1:n.42+72423_42+72441del | |
| NM_001329095.1:c.24+4435_24+4453del | NP_001316024.1:n.24+4435_24+4453del | |
| NM_001329096.1:c.69+40244_69+40262del | NP_001316025.1:n.69+40244_69+40262del | |
| NM_001329097.1:c.129+63459_129+63477del | NP_001316026.1:n.129+63459_129+63477del | |
| XM_017004906.1:c.162+4435_162+4453del | XP_016860395.1:n.162+4435_162+4453del | |
| XM_017004907.1:c.162+4435_162+4453del | XP_016860396.1:n.162+4435_162+4453del | |
| XR_001738941.1:n.236+4435_236+4453del | ||
| XR_001738942.1:n.236+4435_236+4453del | ||
| XR_001738943.1:n.245+4435_245+4453del | ||
| NM_024572.4:c.129+63459_129+63477del MANE Select | NP_078848.2:n.129+63459_129+63477del | |
| NM_001253826.2:c.314+40244_314+40262del | NP_001240755.1:n.314+40244_314+40262del | |
| NM_001329095.2:c.24+4435_24+4453del | NP_001316024.1:n.24+4435_24+4453del | |
| NM_001329096.2:c.69+40244_69+40262del | NP_001316025.1:n.69+40244_69+40262del | |
| NM_001329097.2:c.129+63459_129+63477del | NP_001316026.1:n.129+63459_129+63477del | |
| NM_001253827.2:c.69+40244_69+40262del | NP_001240756.1:n.69+40244_69+40262del |