Linked Data
ClinVar Variation Id:
13877
ClinVar RCV Id:
RCV000014891
RCV000420852
RCV000425374
RCV000426475
RCV000427611
RCV000433907
RCV000436720
RCV000443258
dbSNP Id:
rs121913469
COSMIC:
COSM683
MyVariant Identifiers:
chr17:g.37880219_37880220delinsCC (hg19)
chr17:g.39723966_39723967delinsCC (hg38)
CIViC:
CA123587
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39723966_39723967delinsCC , CM000679.2:g.39723966_39723967delinsCC | GRCh38 |
| NC_000017.10:g.37880219_37880220delinsCC , CM000679.1:g.37880219_37880220delinsCC | GRCh37 |
| NC_000017.9:g.35133745_35133746delinsCC | NCBI36 |
| NG_007503.1:g.40827_40828delinsCC , LRG_724:g.40827_40828delinsCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269571.10:c.2263_2264delinsCC MANE Select | ENSP00000269571.4:p.Leu755Pro | |
| ENST00000269571.9:c.2263_2264delinsCC | ENSP00000269571.4:p.Leu755Pro | |
| ENST00000406381.6:c.2173_2174delinsCC | ENSP00000385185.2:p.Leu725Pro | |
| ENST00000445658.6:c.1435_1436delinsCC | ENSP00000404047.2:p.Leu479Pro | |
| ENST00000541774.5:c.2218_2219delinsCC | ENSP00000446466.1:p.Leu740Pro | |
| ENST00000578373.5:c.*2053_*2054delinsCC | ENSP00000463427.1:n.*2053_*2054delinsCC | |
| ENST00000578630.1:n.872_873delinsCC | ||
| ENST00000580074.1:c.369_370delinsCC | ||
| ENST00000583038.5:n.3397_3398delinsCC | ||
| ENST00000584450.5:c.2263_2264delinsCC | ENSP00000463714.1:p.Leu755Pro | |
| ENST00000584601.5:c.2173_2174delinsCC | ENSP00000462438.1:p.Leu725Pro | |
| NM_001005862.2:c.2173_2174delinsCC , LRG_724t1:c.2173_2174delinsCC | NP_001005862.1:p.Leu725Pro | |
| NM_001289936.1:c.2218_2219delinsCC , LRG_724t4:c.2218_2219delinsCC | NP_001276865.1:p.Leu740Pro | |
| NM_001289937.1:c.2263_2264delinsCC | NP_001276866.1:p.Leu755Pro | |
| NM_004448.3:c.2263_2264delinsCC , LRG_724t2:c.2263_2264delinsCC | NP_004439.2:p.Leu755Pro | |
| NR_110535.1:n.2587_2588delinsCC | ||
| XM_024450641.1:c.2401_2402delinsCC | XP_024306409.1:p.Leu801Pro | |
| XM_024450642.1:c.2356_2357delinsCC | XP_024306410.1:p.Leu786Pro | |
| XM_024450643.1:c.2311_2312delinsCC | XP_024306411.1:p.Leu771Pro | |
| NM_001005862.3:c.2173_2174delinsCC | NP_001005862.1:p.Leu725Pro | |
| NM_001289936.2:c.2218_2219delinsCC | NP_001276865.1:p.Leu740Pro | |
| NM_001289937.2:c.2263_2264delinsCC | NP_001276866.1:p.Leu755Pro | |
| NM_001382782.1:c.2173_2174delinsCC | NP_001369711.1:p.Leu725Pro | |
| NM_001382783.1:c.2173_2174delinsCC | NP_001369712.1:p.Leu725Pro | |
| NM_001382784.1:c.2380_2381delinsCC | NP_001369713.1:p.Leu794Pro | |
| NM_001382785.1:c.2365_2366delinsCC | NP_001369714.1:p.Leu789Pro | |
| NM_001382786.1:c.2344_2345delinsCC | NP_001369715.1:p.Leu782Pro | |
| NM_001382787.1:c.2338_2339delinsCC | NP_001369716.1:p.Leu780Pro | |
| NM_001382788.1:c.2293_2294delinsCC | NP_001369717.1:p.Leu765Pro | |
| NM_001382789.1:c.2284_2285delinsCC | NP_001369718.1:p.Leu762Pro | |
| NM_001382790.1:c.2260_2261delinsCC | NP_001369719.1:p.Leu754Pro | |
| NM_001382791.1:c.2254_2255delinsCC | NP_001369720.1:p.Leu752Pro | |
| NM_001382792.1:c.2227_2228delinsCC | NP_001369721.1:p.Leu743Pro | |
| NM_001382793.1:c.2221_2222delinsCC | NP_001369722.1:p.Leu741Pro | |
| NM_001382794.1:c.2221_2222delinsCC | NP_001369723.1:p.Leu741Pro | |
| NM_001382795.1:c.2215_2216delinsCC | NP_001369724.1:p.Leu739Pro | |
| NM_001382796.1:c.2263_2264delinsCC | NP_001369725.1:p.Leu755Pro | |
| NM_001382797.1:c.2208+306_2208+307delinsCC | NP_001369726.1:n.2208+306_2208+307delinsC... | |
| NM_001382798.1:c.2263_2264delinsCC | NP_001369727.1:p.Leu755Pro | |
| NM_001382799.1:c.2083_2084delinsCC | NP_001369728.1:p.Leu695Pro | |
| NM_001382800.1:c.2263_2264delinsCC | NP_001369729.1:p.Leu755Pro | |
| NM_001382801.1:c.2215_2216delinsCC | NP_001369730.1:p.Leu739Pro | |
| NM_001382802.1:c.2005_2006delinsCC | NP_001369731.1:p.Leu669Pro | |
| NM_001382803.1:c.2221_2222delinsCC | NP_001369732.1:p.Leu741Pro | |
| NM_001382804.1:c.1435_1436delinsCC | NP_001369733.1:p.Leu479Pro | |
| NM_001382805.1:c.2208+306_2208+307delinsCC | NP_001369734.1:n.2208+306_2208+307delinsC... | |
| NM_001382806.1:c.1225_1226delinsCC | NP_001369735.1:p.Leu409Pro | |
| NM_004448.4:c.2263_2264delinsCC MANE Select | NP_004439.2:p.Leu755Pro | |
| NR_110535.2:n.2501_2502delinsCC |