Linked Data
ClinVar Variation Id:
3593
ClinVar RCV Id:
RCV000003776
dbSNP Id:
rs864621963
PubMed:
PMID:7603790
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75733584_75733589del , CM000663.2:g.75733584_75733589del | GRCh38 |
| NC_000001.10:g.76199269_76199274del , CM000663.1:g.76199269_76199274del | GRCh37 |
| NC_000001.9:g.75971857_75971862del | NCBI36 |
| NG_007045.2:g.14227_14232del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.343_348del MANE Select | ENSP00000359878.5:p.Gly115_Cys116del | |
| ENST00000473018.3:n.1305_1310del | ||
| ENST00000525881.6:n.1305_1310del | ||
| ENST00000541113.6:c.343_348del | ENSP00000442324.2:p.Gly115_Cys116del | |
| ENST00000679509.1:n.1305_1310del | ||
| ENST00000679530.1:c.*111_*116del | ENSP00000506454.1:n.*111_*116del | |
| ENST00000679615.1:n.1305_1310del | ||
| ENST00000679687.1:c.31-6396_31-6391del | ENSP00000506598.1:n.31-6396_31-6391del | |
| ENST00000679704.1:c.*153+435_*153+440del | ENSP00000505117.1:n.*153+435_*153+440del | |
| ENST00000679709.1:c.*306_*311del | ENSP00000506623.1:n.*306_*311del | |
| ENST00000679804.1:n.207+662_207+667del | ||
| ENST00000679976.1:c.286+662_286+667del | ENSP00000505565.1:n.286+662_286+667del | |
| ENST00000680166.1:n.2470_2475del | ||
| ENST00000680517.1:c.286+662_286+667del | ENSP00000505803.1:n.286+662_286+667del | |
| ENST00000680582.1:n.1305_1310del | ||
| ENST00000680613.1:c.343_348del | ENSP00000506114.1:p.Gly115_Cys116del | |
| ENST00000680662.1:c.*257_*262del | ENSP00000505080.1:n.*257_*262del | |
| ENST00000680691.1:c.*50+662_*50+667del | ENSP00000506487.1:n.*50+662_*50+667del | |
| ENST00000680694.1:c.286+662_286+667del | ENSP00000505658.1:n.286+662_286+667del | |
| ENST00000680743.1:c.*54+662_*54+667del | ENSP00000505073.1:n.*54+662_*54+667del | |
| ENST00000680749.1:c.343_348del | ENSP00000505122.1:p.Gly115_Cys116del | |
| ENST00000680798.1:c.286+662_286+667del | ENSP00000505670.1:n.286+662_286+667del | |
| ENST00000680805.1:c.343_348del | ENSP00000505447.1:p.Gly115_Cys116del | |
| ENST00000680844.1:c.*127_*132del | ENSP00000506541.1:n.*127_*132del | |
| ENST00000680948.1:c.*210_*215del | ENSP00000505441.1:n.*210_*215del | |
| ENST00000680964.1:c.343_348del | ENSP00000505961.1:p.Gly115_Cys116del | |
| ENST00000681037.1:c.343_348del | ENSP00000506025.1:p.Gly115_Cys116del | |
| ENST00000681063.1:c.343_348del | ENSP00000506616.1:p.Gly115_Cys116del | |
| ENST00000681209.1:c.*107_*112del | ENSP00000505877.1:n.*107_*112del | |
| ENST00000681278.1:n.700_705del | ||
| ENST00000681289.1:n.700_705del | ||
| ENST00000681361.1:c.*54+662_*54+667del | ENSP00000506679.1:n.*54+662_*54+667del | |
| ENST00000681430.1:c.343_348del | ENSP00000506301.1:p.Gly115_Cys116del | |
| ENST00000681446.1:c.286+662_286+667del | ENSP00000506244.1:n.286+662_286+667del | |
| ENST00000681450.1:c.*54+662_*54+667del | ENSP00000505660.1:n.*54+662_*54+667del | |
| ENST00000681548.1:c.*54+662_*54+667del | ENSP00000505275.1:n.*54+662_*54+667del | |
| ENST00000681616.1:c.*111_*116del | ENSP00000505111.1:n.*111_*116del | |
| ENST00000681621.1:c.286+662_286+667del | ENSP00000505770.1:n.286+662_286+667del | |
| ENST00000681680.1:n.1305_1310del | ||
| ENST00000681720.1:c.*54+662_*54+667del | ENSP00000505438.1:n.*54+662_*54+667del | |
| ENST00000681730.1:n.565_570del | ||
| ENST00000681790.1:c.85_90del | ENSP00000505130.1:p.Gly29_Cys30del | |
| ENST00000681837.1:n.959_964del | ||
| ENST00000681913.1:n.1305_1310del | ||
| ENST00000681916.1:c.*111_*116del | ENSP00000506477.1:n.*111_*116del | |
| ENST00000681930.1:n.1305_1310del | ||
| ENST00000370834.9:c.442_447del | ENSP00000359871.5:p.Gly148_Cys149del | |
| ENST00000370841.8:c.343_348del | ENSP00000359878.4:p.Gly115_Cys116del | |
| ENST00000420607.6:c.355_360del | ENSP00000409612.2:p.Gly119_Cys120del | |
| ENST00000525808.5:c.*54+662_*54+667del | ENSP00000434823.1:n.*54+662_*54+667del | |
| ENST00000526129.5:c.*127_*132del | ENSP00000434092.1:n.*127_*132del | |
| ENST00000526196.5:c.*111_*116del | ENSP00000431953.1:n.*111_*116del | |
| ENST00000529059.5:n.296+662_296+667del | ||
| ENST00000530953.6:c.118+5096_118+5101del | ENSP00000431372.1:n.118+5096_118+5101del | |
| ENST00000532509.5:c.*107_*112del | ENSP00000432522.1:n.*107_*112del | |
| ENST00000534334.5:c.286+662_286+667del | ENSP00000435584.1:n.286+662_286+667del | |
| ENST00000541113.5:c.235_240del | ENSP00000442324.1:p.Gly79_Cys80del | |
| NM_000016.5:c.343_348del | NP_000007.1:p.Gly115_Cys116del | |
| NM_001127328.2:c.355_360del | NP_001120800.1:p.Gly119_Cys120del | |
| NM_001286042.1:c.235_240del | NP_001272971.1:p.Gly79_Cys80del | |
| NM_001286043.1:c.442_447del | NP_001272972.1:p.Gly148_Cys149del | |
| NM_001286044.1:c.-100+662_-100+667del | NP_001272973.1:n.-100+662_-100+667del | |
| NM_000016.6:c.343_348del MANE Select | NP_000007.1:p.Gly115_Cys116del | |
| NM_001127328.3:c.355_360del | NP_001120800.1:p.Gly119_Cys120del | |
| NM_001286042.2:c.235_240del | NP_001272971.1:p.Gly79_Cys80del | |
| NM_001286043.2:c.442_447del | NP_001272972.1:p.Gly148_Cys149del | |
| NM_001286044.2:c.-100+662_-100+667del | NP_001272973.1:n.-100+662_-100+667del |