Linked Data
ClinVar Variation Id:
100674
dbSNP Id:
rs587777145
gnomAD v3:
8-67158462-CAAAG-C
gnomAD v4:
8-67158462-CAAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67158464_67158467del , CM000670.2:g.67158464_67158467del | GRCh38 |
| NC_000008.10:g.68070699_68070702del , CM000670.1:g.68070699_68070702del | GRCh37 |
| NC_000008.9:g.68233253_68233256del | NCBI36 |
| NG_034100.1:g.99097_99100del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262210.11:c.2325_2328del | ENSP00000262210.6:p.Glu777LysfsTer7 | |
| ENST00000521324.3:c.131_134del | ||
| ENST00000674993.1:c.2349_2352del | ENSP00000502454.1:p.Glu785LysfsTer7 | |
| ENST00000675306.2:c.1983_1986del | ENSP00000502421.1:p.Glu663LysfsTer7 | |
| ENST00000675869.1:c.2064_2067del | ENSP00000502747.1:p.Glu690LysfsTer7 | |
| ENST00000675955.1:c.2178_2181del | ENSP00000501676.1:p.Glu728LysfsTer7 | |
| ENST00000675990.1:n.3588_3591del | ||
| ENST00000676113.1:c.2217_2220del | ENSP00000501645.1:p.Glu741LysfsTer7 | |
| ENST00000676317.1:c.2244_2247del | ENSP00000502047.1:p.Glu750LysfsTer7 | |
| ENST00000676471.1:c.1992_1995del | ENSP00000503711.1:p.Glu666LysfsTer7 | |
| ENST00000676534.1:n.5185_5188del | ||
| ENST00000676567.1:c.*883_*886del | ENSP00000503427.1:n.*883_*886del | |
| ENST00000676573.1:c.1560_1563del | ENSP00000504532.1:p.Glu522LysfsTer7 | |
| ENST00000676605.1:c.2367_2370del | ENSP00000503605.1:p.Glu791LysfsTer7 | |
| ENST00000676695.1:c.2185_2188del | ENSP00000503292.1:n.2185_2188del | |
| ENST00000676697.1:n.3120_3123del | ||
| ENST00000676804.1:c.562_565del | ||
| ENST00000676847.1:c.2238_2241del | ENSP00000503336.1:p.Glu748LysfsTer7 | |
| ENST00000676858.1:c.*220_*223del | ENSP00000502925.1:n.*220_*223del | |
| ENST00000676882.1:c.2145_2148del | ENSP00000504342.1:p.Glu717LysfsTer7 | |
| ENST00000676968.1:c.131_134del | ||
| ENST00000677009.1:c.2244_2247del | ENSP00000503297.1:p.Glu750LysfsTer7 | |
| ENST00000677052.1:n.1757_1760del | ||
| ENST00000677131.1:c.131_134del | ||
| ENST00000677256.1:c.*1978_*1981del | ENSP00000504102.1:n.*1978_*1981del | |
| ENST00000677430.1:c.2178_2181del | ENSP00000504177.1:p.Glu728LysfsTer7 | |
| ENST00000677455.1:n.2132_2135del | ||
| ENST00000677473.1:c.*275_*278del | ENSP00000503534.1:n.*275_*278del | |
| ENST00000677592.1:c.2226_2229del | ENSP00000504516.1:p.Glu744LysfsTer7 | |
| ENST00000677619.1:c.1605_1608del | ENSP00000504522.1:p.Glu537LysfsTer7 | |
| ENST00000677697.1:n.227_230del | ||
| ENST00000677845.1:c.*630_*633del | ENSP00000503524.1:n.*630_*633del | |
| ENST00000677855.1:c.1567_1570del | ENSP00000504757.1:n.1567_1570del | |
| ENST00000677964.1:c.131_134del | ||
| ENST00000678017.1:c.1110_1113del | ENSP00000504394.1:p.Glu372LysfsTer7 | |
| ENST00000678138.1:n.2422_2425del | ||
| ENST00000678156.1:n.1899_1902del | ||
| ENST00000678318.1:c.1794_1797del | ENSP00000503690.1:p.Glu600LysfsTer7 | |
| ENST00000678362.1:c.*1036_*1039del | ENSP00000504317.1:n.*1036_*1039del | |
| ENST00000678542.1:c.2367_2370del | ENSP00000503878.1:p.Glu791LysfsTer7 | |
| ENST00000678616.1:c.2259_2262del MANE Select | ENSP00000504733.1:p.Glu755LysfsTer7 | |
| ENST00000678635.1:n.754_757del | ||
| ENST00000678645.1:c.2136_2139del | ENSP00000504031.1:p.Glu714LysfsTer7 | |
| ENST00000678723.1:c.131_134del | ||
| ENST00000678747.1:c.1686_1689del | ENSP00000503390.1:p.Glu564LysfsTer7 | |
| ENST00000678807.1:n.1294_1297del | ||
| ENST00000678895.1:c.131_134del | ||
| ENST00000679042.1:n.3084_3087del | ||
| ENST00000679112.1:c.*2158_*2161del | ENSP00000503739.1:n.*2158_*2161del | |
| ENST00000679226.1:c.1983_1986del | ENSP00000503601.1:p.Glu663LysfsTer7 | |
| ENST00000679274.1:n.1183_1186del | ||
| ENST00000679295.1:n.1230_1233del | ||
| ENST00000262210.9:c.2244_2247del | ENSP00000262210.5:p.Glu750LysfsTer7 | |
| ENST00000519163.6:c.*2510_*2513del | ENSP00000428694.1:n.*2510_*2513del | |
| ENST00000519668.1:c.1209_1212del | ENSP00000430092.1:p.Glu405LysfsTer7 | |
| ENST00000521168.5:n.249_252del | ||
| NM_001291339.1:c.1209_1212del | NP_001278268.1:p.Glu405LysfsTer7 | |
| NM_024790.6:c.2244_2247del | NP_079066.5:p.Glu750LysfsTer7 | |
| XM_005251305.3:c.2487_2490del | XP_005251362.2:p.Glu831LysfsTer7 | |
| XM_006716474.2:c.2334_2337del | XP_006716537.2:p.Glu780LysfsTer7 | |
| XM_006716477.2:c.1956_1959del | XP_006716540.2:p.Glu654LysfsTer7 | |
| XM_011517598.1:c.2529_2532del | XP_011515900.1:p.Glu845LysfsTer7 | |
| XM_011517599.1:c.2505_2508del | XP_011515901.1:p.Glu837LysfsTer7 | |
| XM_011517600.1:c.2463_2466del | XP_011515902.1:p.Glu823LysfsTer7 | |
| XM_011517601.1:c.2424_2427del | XP_011515903.1:p.Glu810LysfsTer7 | |
| XM_011517602.1:c.2382_2385del | XP_011515904.1:p.Glu796LysfsTer7 | |
| XM_011517603.1:c.2283_2286del | XP_011515905.1:p.Glu763LysfsTer7 | |
| XM_011517604.1:c.2283_2286del | XP_011515906.1:p.Glu763LysfsTer7 | |
| XM_011517605.1:c.2283_2286del | XP_011515907.1:p.Glu763LysfsTer7 | |
| XM_011517606.1:c.2259_2262del | XP_011515908.1:p.Glu755LysfsTer7 | |
| XM_011517607.1:c.2259_2262del | XP_011515909.1:p.Glu755LysfsTer7 | |
| XM_011517608.1:c.2178_2181del | XP_011515910.1:p.Glu728LysfsTer7 | |
| XM_011517609.1:c.1404_1407del | XP_011515911.1:p.Glu470LysfsTer7 | |
| XM_011517610.1:c.924_927del | XP_011515912.1:p.Glu310LysfsTer7 | |
| XM_011517611.1:c.564_567del | XP_011515913.1:p.Glu190LysfsTer7 | |
| NM_001363131.1:c.2178_2181del | NP_001350060.1:p.Glu728LysfsTer7 | |
| NM_001363132.1:c.2064_2067del | NP_001350061.1:p.Glu690LysfsTer7 | |
| NM_001363133.1:c.1983_1986del | NP_001350062.1:p.Glu663LysfsTer7 | |
| NM_001364869.1:c.2325_2328del | NP_001351798.1:p.Glu777LysfsTer7 | |
| NM_001364870.1:c.2145_2148del | NP_001351799.1:p.Glu717LysfsTer7 | |
| XM_005251305.4:c.2487_2490del | XP_005251362.2:p.Glu831LysfsTer7 | |
| XM_006716474.3:c.2334_2337del | XP_006716537.2:p.Glu780LysfsTer7 | |
| XM_006716477.3:c.1956_1959del | XP_006716540.2:p.Glu654LysfsTer7 | |
| XM_011517598.2:c.2529_2532del | XP_011515900.1:p.Glu845LysfsTer7 | |
| XM_011517599.2:c.2505_2508del | XP_011515901.1:p.Glu837LysfsTer7 | |
| XM_011517600.2:c.2463_2466del | XP_011515902.1:p.Glu823LysfsTer7 | |
| XM_011517601.2:c.2424_2427del | XP_011515903.1:p.Glu810LysfsTer7 | |
| XM_011517602.2:c.2382_2385del | XP_011515904.1:p.Glu796LysfsTer7 | |
| XM_011517603.2:c.2283_2286del | XP_011515905.1:p.Glu763LysfsTer7 | |
| XM_011517607.2:c.2259_2262del | XP_011515909.1:p.Glu755LysfsTer7 | |
| XM_011517609.2:c.1404_1407del | XP_011515911.1:p.Glu470LysfsTer7 | |
| XM_011517611.3:c.564_567del | XP_011515913.1:p.Glu190LysfsTer7 | |
| XM_017013847.2:c.2388_2391del | XP_016869336.1:p.Glu798LysfsTer7 | |
| XM_017013848.2:c.2364_2367del | XP_016869337.1:p.Glu790LysfsTer7 | |
| XM_017013849.2:c.2325_2328del | XP_016869338.1:p.Glu777LysfsTer7 | |
| XM_017013850.2:c.2283_2286del | XP_016869339.1:p.Glu763LysfsTer7 | |
| XM_017013851.2:c.2136_2139del | XP_016869340.1:p.Glu714LysfsTer7 | |
| XM_017013852.2:c.2130_2133del | XP_016869341.1:p.Glu712LysfsTer7 | |
| XM_017013854.2:c.1932_1935del | XP_016869343.1:p.Glu646LysfsTer7 | |
| XM_017013855.2:c.1698_1701del | XP_016869344.1:p.Glu568LysfsTer7 | |
| XM_017013856.2:c.1605_1608del | XP_016869345.1:p.Glu537LysfsTer7 | |
| XM_017013858.2:c.771_774del | XP_016869347.1:p.Glu259LysfsTer7 | |
| XM_024447278.1:c.2259_2262del | XP_024303046.1:p.Glu755LysfsTer7 | |
| XM_024447279.1:c.2178_2181del | XP_024303047.1:p.Glu728LysfsTer7 | |
| XM_024447281.1:c.1983_1986del | XP_024303049.1:p.Glu663LysfsTer7 | |
| XM_024447282.1:c.1686_1689del | XP_024303050.1:p.Glu564LysfsTer7 | |
| XM_024447283.1:c.1362_1365del | XP_024303051.1:p.Glu456LysfsTer7 | |
| XM_024447284.1:c.924_927del | XP_024303052.1:p.Glu310LysfsTer7 | |
| NM_001363131.2:c.2178_2181del | NP_001350060.1:p.Glu728LysfsTer7 | |
| NM_001363132.2:c.2064_2067del | NP_001350061.1:p.Glu690LysfsTer7 | |
| NM_001363133.2:c.1983_1986del | NP_001350062.1:p.Glu663LysfsTer7 | |
| NM_001291339.2:c.1209_1212del | NP_001278268.1:p.Glu405LysfsTer7 | |
| NM_001382391.1:c.2259_2262del MANE Select | NP_001369320.1:p.Glu755LysfsTer7 |