Linked Data
ClinVar Variation Id:
555160
dbSNP Id:
rs1553130269
MyVariant Identifiers:
chr1:g.45333478_45333483del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45333480_45333485del , CM000663.2:g.45333480_45333485del | GRCh38 |
| NC_000001.10:g.45799152_45799157del , CM000663.1:g.45799152_45799157del | GRCh37 |
| NC_000001.9:g.45571739_45571744del | NCBI36 |
| NG_008189.1:g.11988_11993del , LRG_220:g.11988_11993del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.37-649_37-644del | ENSP00000410263.2:n.37-649_37-644del | |
| ENST00000435155.2:c.227_232del | ENSP00000403655.2:p.Val76_Thr77del | |
| ENST00000467459.6:c.194_199del | ENSP00000435889.2:p.Val65_Thr66del | |
| ENST00000483127.2:c.212_217del | ENSP00000436469.2:p.Val71_Thr72del | |
| ENST00000485271.6:c.194_199del | ENSP00000431264.2:p.Val65_Thr66del | |
| ENST00000529892.6:c.236_241del | ENSP00000432528.2:p.Val79_Thr80del | |
| ENST00000533178.6:c.116-796_116-791del | ENSP00000436430.2:n.116-796_116-791del | |
| ENST00000672314.2:c.194_199del | ENSP00000500828.2:p.Val65_Thr66del | |
| ENST00000674679.2:c.*106_*111del | ENSP00000501623.2:n.*106_*111del | |
| ENST00000710952.2:c.278_283del MANE Plus Clinical | ENSP00000518552.2:p.Val93_Thr94del | |
| ENST00000672818.3:c.269_274del | ENSP00000500891.1:p.Val90_Thr91del | |
| ENST00000450313.6:c.278_283del | ENSP00000408176.2:p.Val93_Thr94del | |
| ENST00000456914.7:c.194_199del MANE Select | ENSP00000407590.2:p.Val65_Thr66del | |
| ENST00000461495.6:c.*7_*12del | ENSP00000437166.1:n.*7_*12del | |
| ENST00000671856.1:n.214_219del | ||
| ENST00000671898.1:c.782_787del | ENSP00000499896.1:p.Val261_Thr262del | |
| ENST00000672011.1:c.236_241del | ENSP00000500418.1:p.Val79_Thr80del | |
| ENST00000672314.1:c.194_199del | ENSP00000500828.1:p.Val65_Thr66del | |
| ENST00000672593.1:c.*7_*12del | ENSP00000500455.1:n.*7_*12del | |
| ENST00000672764.1:c.227_232del | ENSP00000500886.1:p.Val76_Thr77del | |
| ENST00000672818.2:c.269_274del | ENSP00000500891.1:p.Val90_Thr91del | |
| ENST00000673134.1:c.*7_*12del | ENSP00000500526.1:n.*7_*12del | |
| ENST00000674679.1:c.222_227del | ENSP00000501623.1:n.222_227del | |
| ENST00000354383.10:c.197_202del | ENSP00000346354.6:p.Val66_Thr67del | |
| ENST00000355498.6:c.194_199del | ENSP00000347685.2:p.Val65_Thr66del | |
| ENST00000372098.7:c.269_274del | ENSP00000361170.3:p.Val90_Thr91del | |
| ENST00000372104.5:c.194_199del | ENSP00000361176.1:p.Val65_Thr66del | |
| ENST00000372110.7:c.239_244del | ENSP00000361182.3:p.Val80_Thr81del | |
| ENST00000372115.7:c.236_241del | ENSP00000361187.3:p.Val79_Thr80del | |
| ENST00000412971.5:c.37-649_37-644del | ENSP00000410263.1:n.37-649_37-644del | |
| ENST00000435155.1:c.227_232del | ENSP00000403655.1:p.Val76_Thr77del | |
| ENST00000448481.5:c.227_232del | ENSP00000409718.1:p.Val76_Thr77del | |
| ENST00000450313.5:c.278_283del | ENSP00000408176.1:p.Val93_Thr94del | |
| ENST00000456914.6:c.194_199del | ENSP00000407590.2:p.Val65_Thr66del | |
| ENST00000461495.5:c.*7_*12del | ENSP00000437166.1:n.*7_*12del | |
| ENST00000462387.5:n.336-159_336-154del | ||
| ENST00000467940.5:c.*117_*122del | ENSP00000436478.1:n.*117_*122del | |
| ENST00000470256.5:c.197_202del | ENSP00000434985.1:p.Val66_Thr67del | |
| ENST00000474703.1:n.349_354del | ||
| ENST00000475516.5:c.*7_*12del | ENSP00000433843.1:n.*7_*12del | |
| ENST00000476789.5:n.414_419del | ||
| ENST00000479746.6:n.257_262del | ||
| ENST00000481139.5:n.333_338del | ||
| ENST00000481571.5:c.*7_*12del | ENSP00000436597.1:n.*7_*12del | |
| ENST00000483127.1:c.212_217del | ENSP00000436469.1:p.Val71_Thr72del | |
| ENST00000483642.5:n.375_380del | ||
| ENST00000485484.5:n.244_249del | ||
| ENST00000488731.6:c.116-649_116-644del | ENSP00000432330.1:n.116-649_116-644del | |
| ENST00000492494.5:n.257_262del | ||
| ENST00000525160.5:c.158-159_158-154del | ENSP00000431568.1:n.158-159_158-154del | |
| ENST00000528013.6:c.236_241del | ENSP00000433130.2:p.Val79_Thr80del | |
| ENST00000529984.5:c.116-649_116-644del | ENSP00000437093.1:n.116-649_116-644del | |
| ENST00000531105.5:c.115+908_115+913del | ENSP00000431292.1:n.115+908_115+913del | |
| ENST00000533178.5:c.122-796_122-791del | ENSP00000436430.1:n.122-796_122-791del | |
| NM_001048171.1:c.236_241del | NP_001041636.1:p.Val79_Thr80del | |
| NM_001048172.1:c.197_202del | NP_001041637.1:p.Val66_Thr67del | |
| NM_001048173.1:c.194_199del | NP_001041638.1:p.Val65_Thr66del | |
| NM_001048174.1:c.194_199del | NP_001041639.1:p.Val65_Thr66del | |
| NM_001128425.1:c.278_283del , LRG_220t1:c.278_283del | NP_001121897.1:p.Val93_Thr94del | |
| NM_001293190.1:c.239_244del | NP_001280119.1:p.Val80_Thr81del | |
| NM_001293191.1:c.227_232del | NP_001280120.1:p.Val76_Thr77del | |
| NM_001293192.1:c.-83_-78del | NP_001280121.1:n.-83_-78del | |
| NM_001293195.1:c.194_199del | NP_001280124.1:p.Val65_Thr66del | |
| NM_001293196.1:c.-83_-78del | NP_001280125.1:n.-83_-78del | |
| NM_012222.2:c.269_274del | NP_036354.1:p.Val90_Thr91del | |
| XM_011541497.1:c.254_259del | XP_011539799.1:p.Val85_Thr86del | |
| XM_011541498.1:c.236_241del | XP_011539800.1:p.Val79_Thr80del | |
| XM_011541499.1:c.236_241del | XP_011539801.1:p.Val79_Thr80del | |
| XM_011541500.1:c.236_241del | XP_011539802.1:p.Val79_Thr80del | |
| XM_011541501.1:c.236_241del | XP_011539803.1:p.Val79_Thr80del | |
| XM_011541502.1:c.236_241del | XP_011539804.1:p.Val79_Thr80del | |
| XM_011541503.1:c.278_283del | XP_011539805.1:p.Val93_Thr94del | |
| XM_011541504.1:c.227_232del | XP_011539806.1:p.Val76_Thr77del | |
| XM_011541505.1:c.43-649_43-644del | XP_011539807.1:n.43-649_43-644del | |
| XM_011541506.1:c.43-649_43-644del | XP_011539808.1:n.43-649_43-644del | |
| XR_946658.1:n.325_330del | ||
| NM_001350650.1:c.-78_-73del | NP_001337579.1:n.-78_-73del | |
| NM_001350651.1:c.-78_-73del | NP_001337580.1:n.-78_-73del | |
| NR_146882.1:n.452_457del | ||
| NR_146883.1:n.340_345del | ||
| XM_011541497.3:c.254_259del | XP_011539799.1:p.Val85_Thr86del | |
| XM_011541500.3:c.236_241del | XP_011539802.1:p.Val79_Thr80del | |
| XM_011541501.2:c.236_241del | XP_011539803.1:p.Val79_Thr80del | |
| XM_011541502.2:c.236_241del | XP_011539804.1:p.Val79_Thr80del | |
| XM_011541503.2:c.278_283del | XP_011539805.1:p.Val93_Thr94del | |
| XM_011541504.2:c.227_232del | XP_011539806.1:p.Val76_Thr77del | |
| XM_011541505.2:c.43-649_43-644del | XP_011539807.1:n.43-649_43-644del | |
| XM_011541506.2:c.43-649_43-644del | XP_011539808.1:n.43-649_43-644del | |
| XM_017001331.1:c.236_241del | XP_016856820.1:p.Val79_Thr80del | |
| XM_017001332.1:c.236_241del | XP_016856821.1:p.Val79_Thr80del | |
| XM_017001333.1:c.236_241del | XP_016856822.1:p.Val79_Thr80del | |
| XM_017001334.1:c.197_202del | XP_016856823.1:p.Val66_Thr67del | |
| XM_017001335.1:c.-83_-78del | XP_016856824.1:n.-83_-78del | |
| XM_017001336.1:c.-78_-73del | XP_016856825.1:n.-78_-73del | |
| XM_017001337.1:c.-78_-73del | XP_016856826.1:n.-78_-73del | |
| XM_024447244.1:c.-78_-73del | XP_024303012.1:n.-78_-73del | |
| XM_024447245.1:c.-78_-73del | XP_024303013.1:n.-78_-73del | |
| XM_024447248.1:c.-78_-73del | XP_024303016.1:n.-78_-73del | |
| XM_024447249.1:c.-574_-569del | XP_024303017.1:n.-574_-569del | |
| XM_024447250.1:c.-574_-569del | XP_024303018.1:n.-574_-569del | |
| XM_024447251.1:c.-332_-327del | XP_024303019.1:n.-332_-327del | |
| XR_001737190.1:n.239_244del | ||
| XR_001737192.1:n.167_172del | ||
| XR_002956643.1:n.347_352del | ||
| XR_002956644.1:n.432_437del | ||
| XR_946658.2:n.339_344del | ||
| NM_001048171.2:c.194_199del | NP_001041636.2:p.Val65_Thr66del | |
| NM_001128425.2:c.278_283del MANE Plus Clinical | NP_001121897.1:p.Val93_Thr94del | |
| NM_001048172.2:c.197_202del | NP_001041637.1:p.Val66_Thr67del | |
| NM_001048173.2:c.194_199del | NP_001041638.1:p.Val65_Thr66del | |
| NM_001048174.2:c.194_199del MANE Select | NP_001041639.1:p.Val65_Thr66del | |
| NM_001293190.2:c.239_244del | NP_001280119.1:p.Val80_Thr81del | |
| NM_001293191.2:c.227_232del | NP_001280120.1:p.Val76_Thr77del | |
| NM_001293192.2:c.-83_-78del | NP_001280121.1:n.-83_-78del | |
| NM_001293195.2:c.194_199del | NP_001280124.1:p.Val65_Thr66del | |
| NM_001293196.2:c.-83_-78del | NP_001280125.1:n.-83_-78del | |
| NM_001350650.2:c.-78_-73del | NP_001337579.1:n.-78_-73del | |
| NM_001350651.2:c.-78_-73del | NP_001337580.1:n.-78_-73del | |
| NM_012222.3:c.269_274del | NP_036354.1:p.Val90_Thr91del | |
| NR_146882.2:n.422_427del | ||
| NR_146883.2:n.345_350del |