Linked Data
ClinVar Variation Id:
411063
ClinVar RCV Id:
RCV002374807
dbSNP Id:
rs746766787
ExAC:
7:6038756 CAG / C
gnomAD v2:
7-6038756-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5999128_5999129del , CM000669.2:g.5999128_5999129del | GRCh38 |
| NC_000007.13:g.6038759_6038760del , CM000669.1:g.6038759_6038760del | GRCh37 |
| NC_000007.12:g.6005285_6005286del | NCBI36 |
| NG_008466.1:g.14980_14981del , LRG_161:g.14980_14981del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*280_*281del | ENSP00000514615.2:n.*280_*281del | |
| ENST00000699840.2:c.683_684del | ENSP00000514638.2:p.Ser228CysfsTer19 | |
| ENST00000699930.2:c.597+89_597+90del | ENSP00000514695.2:n.597+89_597+90del | |
| ENST00000406569.8:c.686_687del | ENSP00000514464.1:p.Ser229CysfsTer19 | |
| ENST00000644110.2:c.*280_*281del | ENSP00000496392.2:n.*280_*281del | |
| ENST00000699752.1:c.686_687del | ENSP00000514561.1:p.Ser229CysfsTer19 | |
| ENST00000699753.1:c.*85_*86del | ENSP00000514562.1:n.*85_*86del | |
| ENST00000699754.1:c.686_687del | ENSP00000514563.1:p.Ser229CysfsTer13 | |
| ENST00000699755.1:c.*85_*86del | ENSP00000514564.1:n.*85_*86del | |
| ENST00000699756.1:c.*273_*274del | ENSP00000514565.1:n.*273_*274del | |
| ENST00000699757.1:c.135_136del | ENSP00000514566.1:p.Val47LeufsTer27 | |
| ENST00000699758.1:c.399_400del | ENSP00000514567.1:p.Val135LeufsTer27 | |
| ENST00000699759.1:n.758_759del | ||
| ENST00000699760.1:c.368_369del | ENSP00000514568.1:p.Ser123CysfsTer19 | |
| ENST00000699761.1:c.281_282del | ENSP00000514569.1:p.Ser94CysfsTer19 | |
| ENST00000699762.1:c.133-1704_133-1703del | ENSP00000514570.1:n.133-1704_133-1703del | |
| ENST00000699763.1:c.281_282del | ENSP00000514571.1:p.Ser94CysfsTer19 | |
| ENST00000699764.1:c.686_687del | ENSP00000514572.1:p.Ser229CysfsTer19 | |
| ENST00000699765.1:c.368_369del | ENSP00000514573.1:p.Ser123CysfsTer19 | |
| ENST00000699766.1:c.686_687del | ENSP00000514574.1:p.Ser229CysfsTer19 | |
| ENST00000699767.1:c.686_687del | ENSP00000514575.1:p.Ser229CysfsTer19 | |
| ENST00000699768.1:c.686_687del | ENSP00000514576.1:p.Ser229CysfsTer19 | |
| ENST00000699811.1:c.281_282del | ENSP00000514614.1:p.Ser94CysfsTer19 | |
| ENST00000699813.1:n.799_800del | ||
| ENST00000699814.1:c.507_508del | ||
| ENST00000699815.1:c.*187_*188del | ENSP00000514616.1:n.*187_*188del | |
| ENST00000699816.1:c.281_282del | ENSP00000514617.1:p.Ser94CysfsTer19 | |
| ENST00000699817.1:c.*280_*281del | ENSP00000514618.1:n.*280_*281del | |
| ENST00000699818.1:c.281_282del | ENSP00000514619.1:p.Ser94CysfsTer19 | |
| ENST00000699819.1:c.219_220del | ENSP00000514620.1:p.Val75LeufsTer27 | |
| ENST00000699820.1:c.686_687del | ENSP00000514621.1:p.Ser229CysfsTer19 | |
| ENST00000699821.1:c.281_282del | ENSP00000514622.1:p.Ser94CysfsTer19 | |
| ENST00000699822.1:c.*138_*139del | ENSP00000514623.1:n.*138_*139del | |
| ENST00000699823.1:c.281_282del | ENSP00000514624.1:p.Ser94CysfsTer19 | |
| ENST00000699824.1:c.*189_*190del | ENSP00000514625.1:n.*189_*190del | |
| ENST00000699825.1:c.281_282del | ENSP00000514626.1:p.Ser94CysfsTer19 | |
| ENST00000699826.1:c.*85_*86del | ENSP00000514627.1:n.*85_*86del | |
| ENST00000699827.1:c.538-1704_538-1703del | ENSP00000514628.1:n.538-1704_538-1703del | |
| ENST00000699828.1:c.686_687del | ENSP00000514629.1:p.Ser229CysfsTer19 | |
| ENST00000699829.1:c.*187_*188del | ENSP00000514630.1:n.*187_*188del | |
| ENST00000699830.1:c.*85_*86del | ENSP00000514631.1:n.*85_*86del | |
| ENST00000699831.1:n.598_599del | ||
| ENST00000699832.1:n.969_970del | ||
| ENST00000699833.1:n.766_767del | ||
| ENST00000699834.1:n.807+85_807+86del | ||
| ENST00000699837.1:c.281_282del | ENSP00000514635.1:p.Ser94CysfsTer19 | |
| ENST00000699838.1:c.*586_*587del | ENSP00000514636.1:n.*586_*587del | |
| ENST00000699839.1:c.872_873del | ENSP00000514637.1:p.Ser291CysfsTer19 | |
| ENST00000699840.1:c.683_684del | ENSP00000514638.1:p.Ser228CysfsTer19 | |
| ENST00000699916.1:c.234_235del | ENSP00000514684.1:p.Val80LeufsTer27 | |
| ENST00000699917.1:c.*135_*136del | ENSP00000514685.1:n.*135_*136del | |
| ENST00000699918.1:c.*187_*188del | ENSP00000514686.1:n.*187_*188del | |
| ENST00000699919.1:c.*273_*274del | ENSP00000514687.1:n.*273_*274del | |
| ENST00000699920.1:c.*322_*323del | ENSP00000514688.1:n.*322_*323del | |
| ENST00000699928.1:c.686_687del | ENSP00000514693.1:p.Ser229CysfsTer19 | |
| ENST00000699929.1:c.*85_*86del | ENSP00000514694.1:n.*85_*86del | |
| ENST00000699930.1:c.597+89_597+90del | ENSP00000514695.1:n.597+89_597+90del | |
| ENST00000699931.1:n.797_798del | ||
| ENST00000699932.1:c.686_687del | ENSP00000514696.1:p.Ser229CysfsTer19 | |
| ENST00000699933.1:n.766_767del | ||
| ENST00000699951.1:c.686_687del | ENSP00000514706.1:p.Ser229CysfsTer19 | |
| ENST00000699952.1:c.686_687del | ENSP00000514707.1:p.Ser229CysfsTer19 | |
| ENST00000699953.1:c.686_687del | ENSP00000514708.1:p.Ser229CysfsTer? | |
| ENST00000699954.1:c.*85_*86del | ENSP00000514709.1:n.*85_*86del | |
| ENST00000265849.12:c.686_687del MANE Select | ENSP00000265849.7:p.Ser229CysfsTer19 | |
| ENST00000642292.1:c.281_282del | ENSP00000495524.1:p.Ser94CysfsTer19 | |
| ENST00000642456.1:c.281_282del | ENSP00000493814.1:p.Ser94CysfsTer19 | |
| ENST00000643595.1:c.*85_*86del | ENSP00000494497.1:n.*85_*86del | |
| ENST00000644110.1:c.368_369del | ENSP00000496392.1:p.Ser123CysfsTer19 | |
| ENST00000265849.11:c.686_687del | ENSP00000265849.7:p.Ser229CysfsTer19 | |
| ENST00000382321.5:c.686_687del | ENSP00000371758.4:p.Ser229CysfsTer19 | |
| ENST00000406569.7:n.686_687del | ||
| ENST00000441476.6:c.368_369del | ENSP00000392843.2:p.Ser123CysfsTer19 | |
| ENST00000469652.1:n.62+6866_62+6867del | ||
| NM_000535.5:c.686_687del , LRG_161t1:c.686_687del | NP_000526.1:p.Ser229CysfsTer19 | |
| NR_003085.2:n.768_769del | ||
| XM_006715742.2:c.680_681del | XP_006715805.1:p.Ser227CysfsTer19 | |
| XM_011515427.1:c.731_732del | XP_011513729.1:p.Ser244CysfsTer19 | |
| XM_011515428.1:c.731_732del | XP_011513730.1:p.Ser244CysfsTer19 | |
| XM_011515429.1:c.368_369del | XP_011513731.1:p.Ser123CysfsTer19 | |
| XM_011515430.1:c.368_369del | XP_011513732.1:p.Ser123CysfsTer19 | |
| NM_000535.6:c.686_687del | NP_000526.2:p.Ser229CysfsTer19 | |
| NM_001322003.1:c.281_282del | NP_001308932.1:p.Ser94CysfsTer19 | |
| NM_001322004.1:c.281_282del | NP_001308933.1:p.Ser94CysfsTer19 | |
| NM_001322005.1:c.281_282del | NP_001308934.1:p.Ser94CysfsTer19 | |
| NM_001322006.1:c.686_687del | NP_001308935.1:p.Ser229CysfsTer19 | |
| NM_001322007.1:c.368_369del | NP_001308936.1:p.Ser123CysfsTer19 | |
| NM_001322008.1:c.368_369del | NP_001308937.1:p.Ser123CysfsTer19 | |
| NM_001322009.1:c.281_282del | NP_001308938.1:p.Ser94CysfsTer19 | |
| NM_001322010.1:c.281_282del | NP_001308939.1:p.Ser94CysfsTer19 | |
| NM_001322011.1:c.-248_-247del | NP_001308940.1:n.-248_-247del | |
| NM_001322012.1:c.-248_-247del | NP_001308941.1:n.-248_-247del | |
| NM_001322013.1:c.133-1704_133-1703del | NP_001308942.1:n.133-1704_133-1703del | |
| NM_001322014.1:c.686_687del | NP_001308943.1:p.Ser229CysfsTer19 | |
| NM_001322015.1:c.377_378del | NP_001308944.1:p.Ser126CysfsTer19 | |
| NR_136154.1:n.773_774del | ||
| XM_017012342.2:c.-148_-147del | XP_016867831.1:n.-148_-147del | |
| XM_024446800.1:c.281_282del | XP_024302568.1:p.Ser94CysfsTer19 | |
| NM_000535.7:c.686_687del MANE Select | NP_000526.2:p.Ser229CysfsTer19 | |
| NM_001322003.2:c.281_282del | NP_001308932.1:p.Ser94CysfsTer19 | |
| NM_001322004.2:c.281_282del | NP_001308933.1:p.Ser94CysfsTer19 | |
| NM_001322005.2:c.281_282del | NP_001308934.1:p.Ser94CysfsTer19 | |
| NM_001322006.2:c.686_687del | NP_001308935.1:p.Ser229CysfsTer19 | |
| NM_001322008.2:c.368_369del | NP_001308937.1:p.Ser123CysfsTer19 | |
| NM_001322009.2:c.281_282del | NP_001308938.1:p.Ser94CysfsTer19 | |
| NM_001322010.2:c.281_282del | NP_001308939.1:p.Ser94CysfsTer19 | |
| NM_001322011.2:c.-248_-247del | NP_001308940.1:n.-248_-247del | |
| NM_001322012.2:c.-248_-247del | NP_001308941.1:n.-248_-247del | |
| NM_001322013.2:c.133-1704_133-1703del | NP_001308942.1:n.133-1704_133-1703del | |
| NM_001322014.2:c.686_687del | NP_001308943.1:p.Ser229CysfsTer19 | |
| NM_001322015.2:c.377_378del | NP_001308944.1:p.Ser126CysfsTer19 | |
| NM_001322007.2:c.368_369del | NP_001308936.1:p.Ser123CysfsTer19 |