Linked Data
ClinVar Variation Id:
44993
ClinVar RCV Id:
RCV000038132
dbSNP Id:
rs397516982
MyVariant Identifiers:
chr17:g.37881003_37881011dupGGCTCCCCA (hg19)
chr17:g.39724750_39724758dupGGCTCCCCA (hg38)
CIViC:
CA135401
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724750_39724758dup , CM000679.2:g.39724750_39724758dup | GRCh38 |
| NC_000017.10:g.37881003_37881011dup , CM000679.1:g.37881003_37881011dup | GRCh37 |
| NC_000017.9:g.35134529_35134537dup | NCBI36 |
| NG_007503.1:g.41611_41619dup , LRG_724:g.41611_41619dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269571.10:c.2332_2340dup MANE Select | ENSP00000269571.4:p.Pro780_Tyr781insGlySe... | |
| ENST00000269571.9:c.2332_2340dup | ENSP00000269571.4:p.Pro780_Tyr781insGlySe... | |
| ENST00000406381.6:c.2242_2250dup | ENSP00000385185.2:p.Pro750_Tyr751insGlySe... | |
| ENST00000445658.6:c.1504_1512dup | ENSP00000404047.2:p.Pro504_Tyr505insGlySe... | |
| ENST00000541774.5:c.2287_2295dup | ENSP00000446466.1:p.Pro765_Tyr766insGlySe... | |
| ENST00000578373.5:c.*2122_*2130dup | ENSP00000463427.1:n.*2122_*2130dup | |
| ENST00000580074.1:c.438_446dup | ||
| ENST00000583038.5:n.3466_3474dup | ||
| ENST00000584450.5:c.2332_2340dup | ENSP00000463714.1:p.Pro780_Tyr781insGlySe... | |
| ENST00000584601.5:c.2242_2250dup | ENSP00000462438.1:p.Pro750_Tyr751insGlySe... | |
| NM_001005862.2:c.2242_2250dup , LRG_724t1:c.2242_2250dup | NP_001005862.1:p.Pro750_Tyr751insGlySerPr... | |
| NM_001289936.1:c.2287_2295dup , LRG_724t4:c.2287_2295dup | NP_001276865.1:p.Pro765_Tyr766insGlySerPr... | |
| NM_001289937.1:c.2332_2340dup | NP_001276866.1:p.Pro780_Tyr781insGlySerPr... | |
| NM_004448.3:c.2332_2340dup , LRG_724t2:c.2332_2340dup | NP_004439.2:p.Pro780_Tyr781insGlySerPro | |
| NR_110535.1:n.2656_2664dup | ||
| XM_024450641.1:c.2470_2478dup | XP_024306409.1:p.Pro826_Tyr827insGlySerPr... | |
| XM_024450642.1:c.2425_2433dup | XP_024306410.1:p.Pro811_Tyr812insGlySerPr... | |
| XM_024450643.1:c.2380_2388dup | XP_024306411.1:p.Pro796_Tyr797insGlySerPr... | |
| NM_001005862.3:c.2242_2250dup | NP_001005862.1:p.Pro750_Tyr751insGlySerPr... | |
| NM_001289936.2:c.2287_2295dup | NP_001276865.1:p.Pro765_Tyr766insGlySerPr... | |
| NM_001289937.2:c.2332_2340dup | NP_001276866.1:p.Pro780_Tyr781insGlySerPr... | |
| NM_001382782.1:c.2242_2250dup | NP_001369711.1:p.Pro750_Tyr751insGlySerPr... | |
| NM_001382783.1:c.2242_2250dup | NP_001369712.1:p.Pro750_Tyr751insGlySerPr... | |
| NM_001382784.1:c.2449_2457dup | NP_001369713.1:p.Pro819_Tyr820insGlySerPr... | |
| NM_001382785.1:c.2434_2442dup | NP_001369714.1:p.Pro814_Tyr815insGlySerPr... | |
| NM_001382786.1:c.2413_2421dup | NP_001369715.1:p.Pro807_Tyr808insGlySerPr... | |
| NM_001382787.1:c.2407_2415dup | NP_001369716.1:p.Pro805_Tyr806insGlySerPr... | |
| NM_001382788.1:c.2362_2370dup | NP_001369717.1:p.Pro790_Tyr791insGlySerPr... | |
| NM_001382789.1:c.2353_2361dup | NP_001369718.1:p.Pro787_Tyr788insGlySerPr... | |
| NM_001382790.1:c.2329_2337dup | NP_001369719.1:p.Pro779_Tyr780insGlySerPr... | |
| NM_001382791.1:c.2323_2331dup | NP_001369720.1:p.Pro777_Tyr778insGlySerPr... | |
| NM_001382792.1:c.2296_2304dup | NP_001369721.1:p.Pro768_Tyr769insGlySerPr... | |
| NM_001382793.1:c.2290_2298dup | NP_001369722.1:p.Pro766_Tyr767insGlySerPr... | |
| NM_001382794.1:c.2290_2298dup | NP_001369723.1:p.Pro766_Tyr767insGlySerPr... | |
| NM_001382795.1:c.2284_2292dup | NP_001369724.1:p.Pro764_Tyr765insGlySerPr... | |
| NM_001382796.1:c.2332_2340dup | NP_001369725.1:p.Pro780_Tyr781insGlySerPr... | |
| NM_001382797.1:c.2233_2241dup | NP_001369726.1:p.Pro747_Tyr748insGlySerPr... | |
| NM_001382798.1:c.2332_2340dup | NP_001369727.1:p.Pro780_Tyr781insGlySerPr... | |
| NM_001382799.1:c.2152_2160dup | NP_001369728.1:p.Pro720_Tyr721insGlySerPr... | |
| NM_001382800.1:c.2308-299_2308-291dup | NP_001369729.1:n.2308-299_2308-291dup | |
| NM_001382801.1:c.2284_2292dup | NP_001369730.1:p.Pro764_Tyr765insGlySerPr... | |
| NM_001382802.1:c.2074_2082dup | NP_001369731.1:p.Pro694_Tyr695insGlySerPr... | |
| NM_001382803.1:c.2290_2298dup | NP_001369732.1:p.Pro766_Tyr767insGlySerPr... | |
| NM_001382804.1:c.1504_1512dup | NP_001369733.1:p.Pro504_Tyr505insGlySerPr... | |
| NM_001382805.1:c.2208+1090_2208+1098dup | NP_001369734.1:n.2208+1090_2208+1098dup | |
| NM_001382806.1:c.1294_1302dup | NP_001369735.1:p.Pro434_Tyr435insGlySerPr... | |
| NM_004448.4:c.2332_2340dup MANE Select | NP_004439.2:p.Pro780_Tyr781insGlySerPro | |
| NR_110535.2:n.2570_2578dup |