Linked Data
dbSNP Id:
rs755255465
ExAC:
1:196659161 CTTTA / C
gnomAD v2:
1-196659161-CTTTA-C
gnomAD v3:
1-196690031-CTTTA-C
gnomAD v4:
1-196690031-CTTTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196690041_196690044del , CM000663.2:g.196690041_196690044del | GRCh38 |
| NC_000001.10:g.196659171_196659174del , CM000663.1:g.196659171_196659174del | GRCh37 |
| NC_000001.9:g.194925794_194925797del | NCBI36 |
| NG_007259.1:g.43031_43034del , LRG_47:g.43031_43034del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359637.3:c.968-22_968-19del | ENSP00000352658.2:n.968-22_968-19del | |
| ENST00000470918.2:n.1426-22_1426-19del | ||
| ENST00000695968.1:c.977-22_977-19del | ENSP00000512295.1:n.977-22_977-19del | |
| ENST00000695969.1:c.1160-22_1160-19del | ENSP00000512296.1:n.1160-22_1160-19del | |
| ENST00000695970.1:c.1160-22_1160-19del | ENSP00000512297.1:n.1160-22_1160-19del | |
| ENST00000695971.1:c.1139-22_1139-19del | ENSP00000512298.1:n.1139-22_1139-19del | |
| ENST00000695972.1:c.1160-22_1160-19del | ENSP00000512299.1:n.1160-22_1160-19del | |
| ENST00000695973.1:c.1160-22_1160-19del | ENSP00000512300.1:n.1160-22_1160-19del | |
| ENST00000695974.1:c.1160-22_1160-19del | ENSP00000512301.1:n.1160-22_1160-19del | |
| ENST00000695975.1:c.1160-22_1160-19del | ENSP00000512302.1:n.1160-22_1160-19del | |
| ENST00000695976.1:c.971-22_971-19del | ENSP00000512303.1:n.971-22_971-19del | |
| ENST00000695978.1:c.1160-22_1160-19del | ENSP00000512304.1:n.1160-22_1160-19del | |
| ENST00000695979.1:c.1139-22_1139-19del | ENSP00000512305.1:n.1139-22_1139-19del | |
| ENST00000695980.1:n.1280-22_1280-19del | ||
| ENST00000695981.1:c.1160-22_1160-19del | ENSP00000512306.1:n.1160-22_1160-19del | |
| ENST00000695983.1:c.1160-22_1160-19del | ENSP00000512308.1:n.1160-22_1160-19del | |
| ENST00000695984.1:c.244+16878_244+16881del | ENSP00000512309.1:n.244+16878_244+16881de... | |
| ENST00000695986.1:c.*811-22_*811-19del | ENSP00000512311.1:n.*811-22_*811-19del | |
| ENST00000695987.1:c.971-22_971-19del | ENSP00000512312.1:n.971-22_971-19del | |
| ENST00000696018.1:n.1244-22_1244-19del | ||
| ENST00000696019.1:n.1244-22_1244-19del | ||
| ENST00000696020.1:n.1244-22_1244-19del | ||
| ENST00000696021.1:n.1223-22_1223-19del | ||
| ENST00000696022.1:n.1244-22_1244-19del | ||
| ENST00000696023.1:c.1160-22_1160-19del | ENSP00000512334.1:n.1160-22_1160-19del | |
| ENST00000696024.1:n.1244-22_1244-19del | ||
| ENST00000696025.1:n.1244-22_1244-19del | ||
| ENST00000696026.1:c.1160-22_1160-19del | ENSP00000512335.1:n.1160-22_1160-19del | |
| ENST00000696027.1:c.1160-22_1160-19del | ENSP00000512336.1:n.1160-22_1160-19del | |
| ENST00000696028.1:c.1160-22_1160-19del | ENSP00000512337.1:n.1160-22_1160-19del | |
| ENST00000696029.1:c.1160-22_1160-19del | ENSP00000512338.1:n.1160-22_1160-19del | |
| ENST00000696030.1:c.1085-22_1085-19del | ENSP00000512339.1:n.1085-22_1085-19del | |
| ENST00000696031.1:c.*678-22_*678-19del | ENSP00000512340.1:n.*678-22_*678-19del | |
| ENST00000696032.1:c.1160-22_1160-19del | ENSP00000512341.1:n.1160-22_1160-19del | |
| ENST00000696033.1:c.1159+427_1159+430del | ENSP00000512342.1:n.1159+427_1159+430del | |
| ENST00000367429.9:c.1160-22_1160-19del MANE Select | ENSP00000356399.4:n.1160-22_1160-19del | |
| ENST00000359637.2:c.968-22_968-19del | ENSP00000352658.2:n.968-22_968-19del | |
| ENST00000367429.8:c.1160-22_1160-19del | ENSP00000356399.4:n.1160-22_1160-19del | |
| ENST00000466229.5:n.3176-22_3176-19del | ||
| ENST00000630130.2:c.1160-22_1160-19del | ENSP00000487250.1:n.1160-22_1160-19del | |
| NM_000186.3:c.1160-22_1160-19del , LRG_47t1:c.1160-22_1160-19del | NP_000177.2:n.1160-22_1160-19del | |
| NM_001014975.2:c.1160-22_1160-19del | NP_001014975.1:n.1160-22_1160-19del | |
| XM_017001108.2:c.1160-22_1160-19del | XP_016856597.1:n.1160-22_1160-19del | |
| XR_001737134.2:n.1245-22_1245-19del | ||
| NM_000186.4:c.1160-22_1160-19del MANE Select | NP_000177.2:n.1160-22_1160-19del | |
| NM_001014975.3:c.1160-22_1160-19del | NP_001014975.1:n.1160-22_1160-19del |