Linked Data
ClinVar Variation Id:
126521
dbSNP Id:
rs483352837
ExAC:
10:55782808 CACA / C
gnomAD v2:
10-55782808-CACA-C
gnomAD v3:
10-54023048-CACA-C
gnomAD v4:
10-54023048-CACA-C
MyVariant Identifiers:
chr10:g.55782809_55782811del (hg19)
chr10:g.54023050_54023052del (hg38)
chr10:g.54023049_54023051del (hg38)
PubMed:
PMID:25930172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.54023056_54023058del , CM000672.2:g.54023056_54023058del | GRCh38 |
| NC_000010.10:g.55782816_55782818del , CM000672.1:g.55782816_55782818del | GRCh37 |
| NC_000010.9:g.55452822_55452824del | NCBI36 |
| NG_009191.2:g.783241_783243del | |
| NG_009191.3:g.1611132_1611134del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.2403_2405del | ENSP00000482794.1:p.Val802del | |
| ENST00000320301.11:c.2367_2369del MANE Plus Clinical | ENSP00000322604.6:p.Val790del | |
| ENST00000395445.6:c.2388_2390del | ENSP00000378832.2:p.Val797del | |
| ENST00000613657.5:c.2403_2405del | ENSP00000482794.1:p.Val802del | |
| ENST00000642496.1:c.1226_1228del | ||
| ENST00000644397.2:c.2367_2369del MANE Select | ENSP00000495195.1:p.Val790del | |
| ENST00000320301.10:c.2367_2369del | ENSP00000322604.6:p.Val790del | |
| ENST00000361849.7:c.2367_2369del | ENSP00000354950.3:p.Val790del | |
| ENST00000373955.5:c.2367_2369del | ENSP00000363066.1:p.Val790del | |
| ENST00000373956.7:c.*322_*324del | ENSP00000363067.4:n.*322_*324del | |
| ENST00000373957.7:c.2382_2384del | ENSP00000363068.4:p.Val795del | |
| ENST00000373965.6:c.2367_2369del | ENSP00000363076.3:p.Val790del | |
| ENST00000395430.5:c.2367_2369del | ENSP00000378818.1:p.Val790del | |
| ENST00000395432.6:c.2256_2258del | ENSP00000378820.2:p.Val753del | |
| ENST00000395433.5:c.2301_2303del | ENSP00000378821.1:p.Val768del | |
| ENST00000395438.5:c.2367_2369del | ENSP00000378826.2:p.Val790del | |
| ENST00000395440.5:c.1305+172632_1305+172634del | ENSP00000378827.1:n.1305+172632_1305+1726... | |
| ENST00000395442.5:c.1098+190885_1098+190887del | ENSP00000378829.1:n.1098+190885_1098+1908... | |
| ENST00000395445.5:c.2388_2390del | ENSP00000378832.2:p.Val797del | |
| ENST00000395446.5:c.2091+56280_2091+56282del | ENSP00000378833.1:n.2091+56280_2091+56282... | |
| ENST00000409834.5:c.1200_1202del | ENSP00000386693.1:p.Val401del | |
| ENST00000414367.5:c.877-182555_877-182553del | ENSP00000412531.1:n.877-182555_877-182553... | |
| ENST00000414778.5:c.2367_2369del | ENSP00000410304.2:p.Val790del | |
| ENST00000437009.5:c.2154_2156del | ENSP00000412628.2:p.Val719del | |
| ENST00000448885.5:c.*322_*324del | ENSP00000412320.1:n.*322_*324del | |
| ENST00000495484.5:c.-24-165788_-24-165786del | ENSP00000480780.1:n.-24-165788_-24-165786... | |
| ENST00000612394.4:c.2403_2405del | ENSP00000482921.1:p.Val802del | |
| ENST00000613657.4:c.2403_2405del | ENSP00000482794.1:p.Val802del | |
| ENST00000614895.4:c.2382_2384del | ENSP00000478512.1:p.Val795del | |
| ENST00000616114.4:c.2367_2369del | ENSP00000483745.1:p.Val790del | |
| ENST00000617051.4:c.2382_2384del | ENSP00000484703.1:p.Val795del | |
| ENST00000617271.4:c.2367_2369del | ENSP00000478076.1:p.Val790del | |
| ENST00000621708.4:c.2382_2384del | ENSP00000484454.1:p.Val795del | |
| ENST00000622048.4:c.2154_2156del | ENSP00000482329.1:p.Val719del | |
| NM_001142763.1:c.2382_2384del | NP_001136235.1:p.Val795del | |
| NM_001142764.1:c.2367_2369del | NP_001136236.1:p.Val790del | |
| NM_001142765.1:c.2154_2156del | NP_001136237.1:p.Val719del | |
| NM_001142766.1:c.2367_2369del | NP_001136238.1:p.Val790del | |
| NM_001142767.1:c.2256_2258del | NP_001136239.1:p.Val753del | |
| NM_001142768.1:c.2301_2303del | NP_001136240.1:p.Val768del | |
| NM_001142769.1:c.2403_2405del | NP_001136241.1:p.Val802del | |
| NM_001142770.1:c.2367_2369del | NP_001136242.1:p.Val790del | |
| NM_001142771.1:c.2382_2384del | NP_001136243.1:p.Val795del | |
| NM_001142772.1:c.2367_2369del | NP_001136244.1:p.Val790del | |
| NM_001142773.1:c.2301_2303del | NP_001136245.1:p.Val768del | |
| NM_033056.3:c.2367_2369del | NP_149045.3:p.Val790del | |
| NM_001142769.2:c.2403_2405del | NP_001136241.1:p.Val802del | |
| NM_001142770.2:c.2367_2369del | NP_001136242.1:p.Val790del | |
| NM_001354404.1:c.2301_2303del | NP_001341333.1:p.Val768del | |
| NM_001354411.1:c.2388_2390del | NP_001341340.1:p.Val797del | |
| NM_001354420.1:c.2367_2369del | NP_001341349.1:p.Val790del | |
| NM_001354429.1:c.2367_2369del | NP_001341358.1:p.Val790del | |
| NM_001354430.1:c.2367_2369del | NP_001341359.1:p.Val790del | |
| XM_017016573.2:c.2382_2384del | XP_016872062.1:p.Val795del | |
| XR_001747192.2:n.3380_3382del | ||
| XR_001747193.2:n.3380_3382del | ||
| NM_001142763.2:c.2382_2384del | NP_001136235.1:p.Val795del | |
| NM_001142764.2:c.2367_2369del | NP_001136236.1:p.Val790del | |
| NM_001142765.2:c.2154_2156del | NP_001136237.1:p.Val719del | |
| NM_001142766.2:c.2367_2369del | NP_001136238.1:p.Val790del | |
| NM_001142768.2:c.2301_2303del | NP_001136240.1:p.Val768del | |
| NM_001142769.3:c.2403_2405del | NP_001136241.1:p.Val802del | |
| NM_001142770.3:c.2367_2369del | NP_001136242.1:p.Val790del | |
| NM_001142771.2:c.2382_2384del | NP_001136243.1:p.Val795del | |
| NM_001142772.2:c.2367_2369del | NP_001136244.1:p.Val790del | |
| NM_001142773.2:c.2301_2303del | NP_001136245.1:p.Val768del | |
| NM_001354411.2:c.2388_2390del | NP_001341340.1:p.Val797del | |
| NM_001354420.2:c.2367_2369del | NP_001341349.1:p.Val790del | |
| NM_001354429.2:c.2367_2369del | NP_001341358.1:p.Val790del | |
| NM_001354430.2:c.2367_2369del | NP_001341359.1:p.Val790del | |
| NM_033056.4:c.2367_2369del MANE Plus Clinical | NP_149045.3:p.Val790del | |
| NM_001142767.2:c.2256_2258del | NP_001136239.1:p.Val753del | |
| NM_001354404.2:c.2301_2303del | NP_001341333.1:p.Val768del | |
| NM_001384140.1:c.2367_2369del MANE Select | NP_001371069.1:p.Val790del |