Linked Data
ClinVar Variation Id:
226069
dbSNP Id:
rs875989860
gnomAD v3:
1-75762716-CAA-C
gnomAD v4:
1-75762716-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75762718_75762719del , CM000663.2:g.75762718_75762719del | GRCh38 |
| NC_000001.10:g.76228403_76228404del , CM000663.1:g.76228403_76228404del | GRCh37 |
| NC_000001.9:g.76000991_76000992del | NCBI36 |
| NG_007045.2:g.43361_43362del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.1221_1222del MANE Select | ENSP00000359878.5:p.Arg408ThrfsTer6 | |
| ENST00000473018.3:n.3345_3346del | ||
| ENST00000532207.6:n.3553_3554del | ||
| ENST00000541113.6:c.1125_1126del | ENSP00000442324.2:p.Arg376ThrfsTer6 | |
| ENST00000679509.1:n.3504_3505del | ||
| ENST00000679530.1:c.*989_*990del | ENSP00000506454.1:n.*989_*990del | |
| ENST00000679615.1:n.4557_4558del | ||
| ENST00000679687.1:c.783_784del | ENSP00000506598.1:p.Arg262ThrfsTer6 | |
| ENST00000679704.1:c.*987_*988del | ENSP00000505117.1:n.*987_*988del | |
| ENST00000679709.1:c.*1184_*1185del | ENSP00000506623.1:n.*1184_*1185del | |
| ENST00000679976.1:c.*805_*806del | ENSP00000505565.1:n.*805_*806del | |
| ENST00000680166.1:n.4510_4511del | ||
| ENST00000680517.1:c.*1930_*1931del | ENSP00000505803.1:n.*1930_*1931del | |
| ENST00000680582.1:n.2183_2184del | ||
| ENST00000680613.1:c.*714_*715del | ENSP00000506114.1:n.*714_*715del | |
| ENST00000680662.1:c.*1135_*1136del | ENSP00000505080.1:n.*1135_*1136del | |
| ENST00000680691.1:c.*884_*885del | ENSP00000506487.1:n.*884_*885del | |
| ENST00000680694.1:c.*809_*810del | ENSP00000505658.1:n.*809_*810del | |
| ENST00000680743.1:c.*1010_*1011del | ENSP00000505073.1:n.*1010_*1011del | |
| ENST00000680749.1:c.*506_*507del | ENSP00000505122.1:n.*506_*507del | |
| ENST00000680798.1:c.*2017_*2018del | ENSP00000505670.1:n.*2017_*2018del | |
| ENST00000680805.1:c.1080_1081del | ENSP00000505447.1:p.Arg361ThrfsTer6 | |
| ENST00000680844.1:c.*2326_*2327del | ENSP00000506541.1:n.*2326_*2327del | |
| ENST00000680948.1:c.*1088_*1089del | ENSP00000505441.1:n.*1088_*1089del | |
| ENST00000680964.1:c.*1635_*1636del | ENSP00000505961.1:n.*1635_*1636del | |
| ENST00000681037.1:c.*2705_*2706del | ENSP00000506025.1:n.*2705_*2706del | |
| ENST00000681063.1:c.*490_*491del | ENSP00000506616.1:n.*490_*491del | |
| ENST00000681209.1:c.*876_*877del | ENSP00000505877.1:n.*876_*877del | |
| ENST00000681278.1:n.1923_1924del | ||
| ENST00000681289.1:n.5216_5217del | ||
| ENST00000681361.1:c.*2209_*2210del | ENSP00000506679.1:n.*2209_*2210del | |
| ENST00000681430.1:c.*314_*315del | ENSP00000506301.1:n.*314_*315del | |
| ENST00000681446.1:c.*2246_*2247del | ENSP00000506244.1:n.*2246_*2247del | |
| ENST00000681450.1:c.*892_*893del | ENSP00000505660.1:n.*892_*893del | |
| ENST00000681548.1:c.*2128_*2129del | ENSP00000505275.1:n.*2128_*2129del | |
| ENST00000681616.1:c.*2201_*2202del | ENSP00000505111.1:n.*2201_*2202del | |
| ENST00000681621.1:c.*2126_*2127del | ENSP00000505770.1:n.*2126_*2127del | |
| ENST00000681680.1:n.4637_4638del | ||
| ENST00000681720.1:c.*676_*677del | ENSP00000505438.1:n.*676_*677del | |
| ENST00000681730.1:n.1443_1444del | ||
| ENST00000681790.1:c.963_964del | ENSP00000505130.1:p.Arg322ThrfsTer6 | |
| ENST00000681837.1:n.3158_3159del | ||
| ENST00000681913.1:n.3467_3468del | ||
| ENST00000681916.1:c.*989_*990del | ENSP00000506477.1:n.*989_*990del | |
| ENST00000681930.1:n.4666_4667del | ||
| ENST00000370834.9:c.1320_1321del | ENSP00000359871.5:p.Arg441ThrfsTer6 | |
| ENST00000370841.8:c.1221_1222del | ENSP00000359878.4:p.Arg408ThrfsTer6 | |
| ENST00000420607.6:c.1233_1234del | ENSP00000409612.2:p.Arg412ThrfsTer6 | |
| ENST00000481374.1:n.468-575_468-574del | ||
| ENST00000525808.5:c.*807_*808del | ENSP00000434823.1:n.*807_*808del | |
| ENST00000526196.5:c.*989_*990del | ENSP00000431953.1:n.*989_*990del | |
| ENST00000528016.1:c.160-6459_160-6458del | ENSP00000434284.1:n.160-6459_160-6458del | |
| ENST00000529059.5:n.1130_1131del | ||
| ENST00000541113.5:c.1113_1114del | ENSP00000442324.1:p.Arg372ThrfsTer6 | |
| NM_000016.5:c.1221_1222del | NP_000007.1:p.Arg408ThrfsTer6 | |
| NM_001127328.2:c.1233_1234del | NP_001120800.1:p.Arg412ThrfsTer6 | |
| NM_001286042.1:c.1113_1114del | NP_001272971.1:p.Arg372ThrfsTer6 | |
| NM_001286043.1:c.1320_1321del | NP_001272972.1:p.Arg441ThrfsTer6 | |
| NM_001286044.1:c.654_655del | NP_001272973.1:p.Arg219ThrfsTer6 | |
| NM_000016.6:c.1221_1222del MANE Select | NP_000007.1:p.Arg408ThrfsTer6 | |
| NM_001127328.3:c.1233_1234del | NP_001120800.1:p.Arg412ThrfsTer6 | |
| NM_001286042.2:c.1113_1114del | NP_001272971.1:p.Arg372ThrfsTer6 | |
| NM_001286043.2:c.1320_1321del | NP_001272972.1:p.Arg441ThrfsTer6 | |
| NM_001286044.2:c.654_655del | NP_001272973.1:p.Arg219ThrfsTer6 |