Linked Data
ClinVar Variation Id:
65462
ClinVar RCV Id:
RCV000055656
dbSNP Id:
rs886037648
PubMed:
PMID:23830514
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78932377_78932380del , CM000677.2:g.78932377_78932380del | GRCh38 |
| NC_000015.9:g.79224719_79224722del , CM000677.1:g.79224719_79224722del | GRCh37 |
| NC_000015.8:g.77011774_77011777del | NCBI36 |
| NG_009614.1:g.17700_17703del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220166.10:c.485_488del MANE Select | ENSP00000220166.6:p.Leu162ProfsTer? | |
| ENST00000525807.6:c.*363_*366del | ENSP00000432935.2:n.*363_*366del | |
| ENST00000527138.6:n.152_155del | ||
| ENST00000527715.6:n.533_536del | ||
| ENST00000528191.6:c.233_236del | ENSP00000503084.1:p.Leu78ProfsTer26 | |
| ENST00000528741.6:c.371_374del | ENSP00000435329.2:p.Leu124ProfsTer? | |
| ENST00000529263.7:n.654_657del | ||
| ENST00000529612.6:n.3045_3048del | ||
| ENST00000529861.6:c.*472_*475del | ENSP00000432893.1:n.*472_*475del | |
| ENST00000530010.6:n.3045_3048del | ||
| ENST00000534038.6:n.496_499del | ||
| ENST00000534237.6:n.262_265del | ||
| ENST00000534268.6:n.892_895del | ||
| ENST00000534533.6:n.638_641del | ||
| ENST00000615999.5:c.485_488del | ENSP00000483303.2:p.Leu162ProfsTer? | |
| ENST00000649928.2:c.485_488del | ENSP00000496858.2:p.Leu162ProfsTer25 | |
| ENST00000676510.1:c.*1854_*1857del | ENSP00000504686.1:n.*1854_*1857del | |
| ENST00000676596.1:c.485_488del | ENSP00000502871.1:p.Leu162ProfsTer? | |
| ENST00000676639.1:c.*706_*709del | ENSP00000504319.1:n.*706_*709del | |
| ENST00000676668.1:n.1143_1146del | ||
| ENST00000676671.1:n.692_695del | ||
| ENST00000676738.1:n.616_619del | ||
| ENST00000676763.1:c.233_236del | ENSP00000503917.1:p.Leu78ProfsTer25 | |
| ENST00000676808.1:c.*411_*414del | ENSP00000504472.1:n.*411_*414del | |
| ENST00000676850.1:c.485_488del | ENSP00000503646.1:p.Leu162ProfsTer? | |
| ENST00000676865.1:n.508_511del | ||
| ENST00000676880.1:c.485_488del | ENSP00000504341.1:p.Leu162ProfsTer3 | |
| ENST00000677011.1:c.257_260del | ENSP00000504778.1:p.Leu86ProfsTer? | |
| ENST00000677049.1:n.1085_1088del | ||
| ENST00000677102.1:n.677_680del | ||
| ENST00000677207.1:c.233_236del | ENSP00000504828.1:p.Leu78ProfsTer? | |
| ENST00000677238.1:n.3058_3061del | ||
| ENST00000677254.1:n.3059_3062del | ||
| ENST00000677316.1:c.371_374del | ENSP00000504051.1:p.Leu124ProfsTer? | |
| ENST00000677320.1:c.*472_*475del | ENSP00000504445.1:n.*472_*475del | |
| ENST00000677367.1:n.1013_1016del | ||
| ENST00000677448.1:n.906_909del | ||
| ENST00000677534.1:c.648_651del | ENSP00000503261.1:p.Val217LeufsTer7 | |
| ENST00000677789.1:c.406-873_406-870del | ENSP00000503073.1:n.406-873_406-870del | |
| ENST00000677810.1:c.485_488del | ENSP00000503585.1:p.Leu162ProfsTer? | |
| ENST00000677874.1:c.*363_*366del | ENSP00000504459.1:n.*363_*366del | |
| ENST00000677921.1:c.*579_*582del | ENSP00000503406.1:n.*579_*582del | |
| ENST00000677936.1:c.485_488del | ENSP00000502988.1:p.Leu162ProfsTer? | |
| ENST00000678031.1:c.485_488del | ENSP00000503477.1:p.Leu162ProfsTer26 | |
| ENST00000678033.1:n.767_770del | ||
| ENST00000678281.1:c.*219_*222del | ENSP00000503860.1:n.*219_*222del | |
| ENST00000678283.1:c.485_488del | ENSP00000503908.1:p.Leu162ProfsTer? | |
| ENST00000678397.1:n.1729_1732del | ||
| ENST00000678415.1:c.*425_*428del | ENSP00000504210.1:n.*425_*428del | |
| ENST00000678487.1:c.*247_*250del | ENSP00000504239.1:n.*247_*250del | |
| ENST00000678644.1:c.257_260del | ENSP00000503269.1:p.Leu86ProfsTer? | |
| ENST00000678727.1:c.485_488del | ENSP00000503995.1:p.Leu162ProfsTer? | |
| ENST00000678799.1:c.*2991_*2994del | ENSP00000503899.1:n.*2991_*2994del | |
| ENST00000678817.1:n.880_883del | ||
| ENST00000678841.1:n.3037_3040del | ||
| ENST00000678886.1:c.*472_*475del | ENSP00000503640.1:n.*472_*475del | |
| ENST00000678940.1:n.3071_3074del | ||
| ENST00000679017.1:c.485_488del | ENSP00000503247.1:p.Leu162ProfsTer? | |
| ENST00000679047.1:c.485_488del | ENSP00000503846.1:p.Leu162ProfsTer26 | |
| ENST00000679125.1:n.630_633del | ||
| ENST00000679172.1:c.*434_*437del | ENSP00000503819.1:n.*434_*437del | |
| ENST00000679211.1:c.*2991_*2994del | ENSP00000503750.1:n.*2991_*2994del | |
| ENST00000679334.1:c.485_488del | ENSP00000503722.1:p.Leu162ProfsTer? | |
| ENST00000220166.9:c.485_488del | ENSP00000220166.5:p.Leu162ProfsTer? | |
| ENST00000525807.5:c.157_160del | ENSP00000432935.1:p.Cys53LeufsTer15 | |
| ENST00000528191.5:n.408_411del | ||
| ENST00000528741.5:c.257_260del | ENSP00000435329.1:p.Leu86ProfsTer? | |
| ENST00000529263.6:n.654_657del | ||
| ENST00000529612.5:n.256_259del | ||
| ENST00000529861.5:c.*472_*475del | ENSP00000432893.1:n.*472_*475del | |
| ENST00000533777.5:c.*434_*437del | ENSP00000431879.1:n.*434_*437del | |
| ENST00000534038.5:n.550_553del | ||
| ENST00000534533.5:n.455_458del | ||
| ENST00000615999.4:c.449_452del | ENSP00000483303.1:p.Leu150ProfsTer? | |
| NM_004390.3:c.485_488del | NP_004381.2:p.Leu162ProfsTer? | |
| XM_005254181.2:c.371_374del | XP_005254238.1:p.Leu124ProfsTer? | |
| XM_011521276.1:c.485_488del | XP_011519578.1:p.Leu162ProfsTer25 | |
| NM_001319137.1:c.-453_-450del | NP_001306066.1:n.-453_-450del | |
| NM_004390.4:c.485_488del | NP_004381.2:p.Leu162ProfsTer? | |
| XM_017021951.1:c.431_434del | XP_016877440.1:p.Leu144ProfsTer? | |
| XM_017021952.2:c.371_374del | XP_016877441.1:p.Leu124ProfsTer? | |
| XM_024449852.1:c.-22_-19del | XP_024305620.1:n.-22_-19del | |
| XM_024449853.1:c.-25_-22del | XP_024305621.1:n.-25_-22del | |
| XM_024449854.1:c.-453_-450del | XP_024305622.1:n.-453_-450del | |
| XM_024449855.1:c.-450_-447del | XP_024305623.1:n.-450_-447del | |
| NM_004390.5:c.485_488del MANE Select | NP_004381.2:p.Leu162ProfsTer? | |
| NM_001319137.2:c.-453_-450del | NP_001306066.1:n.-453_-450del |