Linked Data
dbSNP Id:
rs756428331
gnomAD v2:
17-37881060-GTGACACAGCTTA-G
gnomAD v4:
17-39724807-GTGACACAGCTTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724810_39724821del , CM000679.2:g.39724810_39724821del | GRCh38 |
| NC_000017.10:g.37881063_37881074del , CM000679.1:g.37881063_37881074del | GRCh37 |
| NC_000017.9:g.35134589_35134600del | NCBI36 |
| NG_007503.1:g.41671_41682del , LRG_724:g.41671_41682del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2392_2403del MANE Select | ENSP00000269571.4:p.Thr798_Met801del | |
| ENST00000269571.9:c.2392_2403del | ENSP00000269571.4:p.Thr798_Met801del | |
| ENST00000406381.6:c.2302_2313del | ENSP00000385185.2:p.Thr768_Met771del | |
| ENST00000445658.6:c.1564_1575del | ENSP00000404047.2:p.Thr522_Met525del | |
| ENST00000541774.5:c.2347_2358del | ENSP00000446466.1:p.Thr783_Met786del | |
| ENST00000578373.5:c.*2182_*2193del | ENSP00000463427.1:n.*2182_*2193del | |
| ENST00000580074.1:c.498_509del | ||
| ENST00000583038.5:n.3526_3537del | ||
| ENST00000584450.5:c.2392_2403del | ENSP00000463714.1:p.Thr798_Met801del | |
| ENST00000584601.5:c.2302_2313del | ENSP00000462438.1:p.Thr768_Met771del | |
| NM_001005862.2:c.2302_2313del , LRG_724t1:c.2302_2313del | NP_001005862.1:p.Thr768_Met771del | |
| NM_001289936.1:c.2347_2358del , LRG_724t4:c.2347_2358del | NP_001276865.1:p.Thr783_Met786del | |
| NM_001289937.1:c.2392_2403del | NP_001276866.1:p.Thr798_Met801del | |
| NM_004448.3:c.2392_2403del , LRG_724t2:c.2392_2403del | NP_004439.2:p.Thr798_Met801del | |
| NR_110535.1:n.2716_2727del | ||
| XM_024450641.1:c.2530_2541del | XP_024306409.1:p.Thr844_Met847del | |
| XM_024450642.1:c.2485_2496del | XP_024306410.1:p.Thr829_Met832del | |
| XM_024450643.1:c.2440_2451del | XP_024306411.1:p.Thr814_Met817del | |
| NM_001005862.3:c.2302_2313del | NP_001005862.1:p.Thr768_Met771del | |
| NM_001289936.2:c.2347_2358del | NP_001276865.1:p.Thr783_Met786del | |
| NM_001289937.2:c.2392_2403del | NP_001276866.1:p.Thr798_Met801del | |
| NM_001382782.1:c.2302_2313del | NP_001369711.1:p.Thr768_Met771del | |
| NM_001382783.1:c.2302_2313del | NP_001369712.1:p.Thr768_Met771del | |
| NM_001382784.1:c.2509_2520del | NP_001369713.1:p.Thr837_Met840del | |
| NM_001382785.1:c.2494_2505del | NP_001369714.1:p.Thr832_Met835del | |
| NM_001382786.1:c.2473_2484del | NP_001369715.1:p.Thr825_Met828del | |
| NM_001382787.1:c.2467_2478del | NP_001369716.1:p.Thr823_Met826del | |
| NM_001382788.1:c.2422_2433del | NP_001369717.1:p.Thr808_Met811del | |
| NM_001382789.1:c.2413_2424del | NP_001369718.1:p.Thr805_Met808del | |
| NM_001382790.1:c.2389_2400del | NP_001369719.1:p.Thr797_Met800del | |
| NM_001382791.1:c.2383_2394del | NP_001369720.1:p.Thr795_Met798del | |
| NM_001382792.1:c.2356_2367del | NP_001369721.1:p.Thr786_Met789del | |
| NM_001382793.1:c.2350_2361del | NP_001369722.1:p.Thr784_Met787del | |
| NM_001382794.1:c.2350_2361del | NP_001369723.1:p.Thr784_Met787del | |
| NM_001382795.1:c.2344_2355del | NP_001369724.1:p.Thr782_Met785del | |
| NM_001382796.1:c.2392_2403del | NP_001369725.1:p.Thr798_Met801del | |
| NM_001382797.1:c.2293_2304del | NP_001369726.1:p.Thr765_Met768del | |
| NM_001382798.1:c.2392_2403del | NP_001369727.1:p.Thr798_Met801del | |
| NM_001382799.1:c.2212_2223del | NP_001369728.1:p.Thr738_Met741del | |
| NM_001382800.1:c.2308-239_2308-228del | NP_001369729.1:n.2308-239_2308-228del | |
| NM_001382801.1:c.2344_2355del | NP_001369730.1:p.Thr782_Met785del | |
| NM_001382802.1:c.2134_2145del | NP_001369731.1:p.Thr712_Met715del | |
| NM_001382803.1:c.2350_2361del | NP_001369732.1:p.Thr784_Met787del | |
| NM_001382804.1:c.1564_1575del | NP_001369733.1:p.Thr522_Met525del | |
| NM_001382805.1:c.2208+1150_2208+1161del | NP_001369734.1:n.2208+1150_2208+1161del | |
| NM_001382806.1:c.1354_1365del | NP_001369735.1:p.Thr452_Met455del | |
| NM_004448.4:c.2392_2403del MANE Select | NP_004439.2:p.Thr798_Met801del | |
| NR_110535.2:n.2630_2641del |