Linked Data
ClinVar Variation Id:
226062
dbSNP Id:
rs875989857
ExAC:
1:76200511 AAAG / A
gnomAD v2:
1-76200511-AAAG-A
gnomAD v3:
1-75734826-AAAG-A
gnomAD v4:
1-75734826-AAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75734833_75734835del , CM000663.2:g.75734833_75734835del | GRCh38 |
| NC_000001.10:g.76200518_76200520del , CM000663.1:g.76200518_76200520del | GRCh37 |
| NC_000001.9:g.75973106_75973108del | NCBI36 |
| NG_007045.2:g.15476_15478del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.430_432del MANE Select | ENSP00000359878.5:p.Lys144del | |
| ENST00000473018.3:n.2554_2556del | ||
| ENST00000525881.6:n.1392_1394del | ||
| ENST00000541113.6:c.430_432del | ENSP00000442324.2:p.Lys144del | |
| ENST00000679509.1:n.1392_1394del | ||
| ENST00000679530.1:c.*198_*200del | ENSP00000506454.1:n.*198_*200del | |
| ENST00000679615.1:n.2554_2556del | ||
| ENST00000679687.1:c.31-5147_31-5145del | ENSP00000506598.1:n.31-5147_31-5145del | |
| ENST00000679704.1:c.*196_*198del | ENSP00000505117.1:n.*196_*198del | |
| ENST00000679709.1:c.*393_*395del | ENSP00000506623.1:n.*393_*395del | |
| ENST00000679804.1:n.207+1911_207+1913del | ||
| ENST00000679976.1:c.*14_*16del | ENSP00000505565.1:n.*14_*16del | |
| ENST00000680166.1:n.3719_3721del | ||
| ENST00000680517.1:c.286+1911_286+1913del | ENSP00000505803.1:n.286+1911_286+1913del | |
| ENST00000680582.1:n.1392_1394del | ||
| ENST00000680613.1:c.430_432del | ENSP00000506114.1:p.Lys144del | |
| ENST00000680662.1:c.*344_*346del | ENSP00000505080.1:n.*344_*346del | |
| ENST00000680691.1:c.*93_*95del | ENSP00000506487.1:n.*93_*95del | |
| ENST00000680694.1:c.*14_*16del | ENSP00000505658.1:n.*14_*16del | |
| ENST00000680743.1:c.*97_*99del | ENSP00000505073.1:n.*97_*99del | |
| ENST00000680749.1:c.430_432del | ENSP00000505122.1:p.Lys144del | |
| ENST00000680798.1:c.*14_*16del | ENSP00000505670.1:n.*14_*16del | |
| ENST00000680805.1:c.430_432del | ENSP00000505447.1:p.Lys144del | |
| ENST00000680844.1:c.*214_*216del | ENSP00000506541.1:n.*214_*216del | |
| ENST00000680948.1:c.*297_*299del | ENSP00000505441.1:n.*297_*299del | |
| ENST00000680964.1:c.430_432del | ENSP00000505961.1:p.Lys144del | |
| ENST00000681037.1:c.430_432del | ENSP00000506025.1:p.Lys144del | |
| ENST00000681063.1:c.430_432del | ENSP00000506616.1:p.Lys144del | |
| ENST00000681209.1:c.*194_*196del | ENSP00000505877.1:n.*194_*196del | |
| ENST00000681278.1:n.787_789del | ||
| ENST00000681289.1:n.787_789del | ||
| ENST00000681361.1:c.*97_*99del | ENSP00000506679.1:n.*97_*99del | |
| ENST00000681430.1:c.430_432del | ENSP00000506301.1:p.Lys144del | |
| ENST00000681446.1:c.*14_*16del | ENSP00000506244.1:n.*14_*16del | |
| ENST00000681450.1:c.*97_*99del | ENSP00000505660.1:n.*97_*99del | |
| ENST00000681548.1:c.*54+1911_*54+1913del | ENSP00000505275.1:n.*54+1911_*54+1913del | |
| ENST00000681616.1:c.*198_*200del | ENSP00000505111.1:n.*198_*200del | |
| ENST00000681621.1:c.*14_*16del | ENSP00000505770.1:n.*14_*16del | |
| ENST00000681680.1:n.2554_2556del | ||
| ENST00000681720.1:c.*54+1911_*54+1913del | ENSP00000505438.1:n.*54+1911_*54+1913del | |
| ENST00000681730.1:n.652_654del | ||
| ENST00000681790.1:c.172_174del | ENSP00000505130.1:p.Lys58del | |
| ENST00000681837.1:n.1046_1048del | ||
| ENST00000681913.1:n.2554_2556del | ||
| ENST00000681916.1:c.*198_*200del | ENSP00000506477.1:n.*198_*200del | |
| ENST00000681930.1:n.2554_2556del | ||
| ENST00000370834.9:c.529_531del | ENSP00000359871.5:p.Lys177del | |
| ENST00000370841.8:c.430_432del | ENSP00000359878.4:p.Lys144del | |
| ENST00000420607.6:c.442_444del | ENSP00000409612.2:p.Lys148del | |
| ENST00000525808.5:c.*54+1911_*54+1913del | ENSP00000434823.1:n.*54+1911_*54+1913del | |
| ENST00000526129.5:c.*214_*216del | ENSP00000434092.1:n.*214_*216del | |
| ENST00000526196.5:c.*198_*200del | ENSP00000431953.1:n.*198_*200del | |
| ENST00000526930.1:n.203_205del | ||
| ENST00000529059.5:n.339_341del | ||
| ENST00000530953.6:c.119-5147_119-5145del | ENSP00000431372.1:n.119-5147_119-5145del | |
| ENST00000532509.5:c.*194_*196del | ENSP00000432522.1:n.*194_*196del | |
| ENST00000534334.5:c.*14_*16del | ENSP00000435584.1:n.*14_*16del | |
| ENST00000541113.5:c.322_324del | ENSP00000442324.1:p.Lys108del | |
| NM_000016.5:c.430_432del | NP_000007.1:p.Lys144del | |
| NM_001127328.2:c.442_444del | NP_001120800.1:p.Lys148del | |
| NM_001286042.1:c.322_324del | NP_001272971.1:p.Lys108del | |
| NM_001286043.1:c.529_531del | NP_001272972.1:p.Lys177del | |
| NM_001286044.1:c.-100+1911_-100+1913del | NP_001272973.1:n.-100+1911_-100+1913del | |
| NM_000016.6:c.430_432del MANE Select | NP_000007.1:p.Lys144del | |
| NM_001127328.3:c.442_444del | NP_001120800.1:p.Lys148del | |
| NM_001286042.2:c.322_324del | NP_001272971.1:p.Lys108del | |
| NM_001286043.2:c.529_531del | NP_001272972.1:p.Lys177del | |
| NM_001286044.2:c.-100+1911_-100+1913del | NP_001272973.1:n.-100+1911_-100+1913del |