Linked Data
dbSNP Id:
rs1263152773
gnomAD v2:
1-196686841-AC-A
gnomAD v3:
1-196717711-AC-A
gnomAD v4:
1-196717711-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196717713del , CM000663.2:g.196717713del | GRCh38 |
| NC_000001.10:g.196686843del , CM000663.1:g.196686843del | GRCh37 |
| NC_000001.9:g.194953466del | NCBI36 |
| NG_007259.1:g.70703del , LRG_47:g.70703del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.1962+1944del | ||
| ENST00000695969.1:c.1696+1944del | ENSP00000512296.1:n.1696+1944del | |
| ENST00000695970.1:c.1696+1944del | ENSP00000512297.1:n.1696+1944del | |
| ENST00000695971.1:c.1675+1944del | ENSP00000512298.1:n.1675+1944del | |
| ENST00000695972.1:c.1696+1944del | ENSP00000512299.1:n.1696+1944del | |
| ENST00000695973.1:c.1696+1944del | ENSP00000512300.1:n.1696+1944del | |
| ENST00000695974.1:c.1696+1944del | ENSP00000512301.1:n.1696+1944del | |
| ENST00000695975.1:c.1696+1944del | ENSP00000512302.1:n.1696+1944del | |
| ENST00000695976.1:c.1507+1944del | ENSP00000512303.1:n.1507+1944del | |
| ENST00000695981.1:c.1696+1944del | ENSP00000512306.1:n.1696+1944del | |
| ENST00000695983.1:c.1696+1944del | ENSP00000512308.1:n.1696+1944del | |
| ENST00000695984.1:c.245-10633del | ENSP00000512309.1:n.245-10633del | |
| ENST00000695986.1:c.*1347+1944del | ENSP00000512311.1:n.*1347+1944del | |
| ENST00000696025.1:n.1780+1944del | ||
| ENST00000696026.1:c.1700+1940del | ENSP00000512335.1:n.1700+1940del | |
| ENST00000696027.1:c.1696+1944del | ENSP00000512336.1:n.1696+1944del | |
| ENST00000696028.1:c.1696+1944del | ENSP00000512337.1:n.1696+1944del | |
| ENST00000696029.1:c.1696+1944del | ENSP00000512338.1:n.1696+1944del | |
| ENST00000696031.1:c.*1214+1944del | ENSP00000512340.1:n.*1214+1944del | |
| ENST00000696032.1:c.1696+1944del | ENSP00000512341.1:n.1696+1944del | |
| ENST00000696033.1:c.1159+28099del | ENSP00000512342.1:n.1159+28099del | |
| ENST00000367429.9:c.1696+1944del MANE Select | ENSP00000356399.4:n.1696+1944del | |
| ENST00000367429.8:c.1696+1944del | ENSP00000356399.4:n.1696+1944del | |
| ENST00000466229.5:n.3712+1944del | ||
| NM_000186.3:c.1696+1944del , LRG_47t1:c.1696+1944del | NP_000177.2:n.1696+1944del | |
| XR_001737134.2:n.1781+1944del | ||
| NM_000186.4:c.1696+1944del MANE Select | NP_000177.2:n.1696+1944del |