Linked Data
ClinVar Variation Id:
5290
dbSNP Id:
rs767004810
gnomAD v2:
1-235564867-TGGGAGCCACGAA-T
gnomAD v3:
1-235401552-TGGGAGCCACGAA-T
gnomAD v4:
1-235401552-TGGGAGCCACGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235401557_235401568del , CM000663.2:g.235401557_235401568del | GRCh38 |
| NC_000001.10:g.235564872_235564883del , CM000663.1:g.235564872_235564883del | GRCh37 |
| NC_000001.9:g.233631495_233631506del | NCBI36 |
| NG_009230.1:g.39145_39156del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366601.8:c.155_166del | ENSP00000355560.4:p.Ser52_Gly55del | |
| ENST00000406207.5:c.155_166del | ENSP00000384571.1:p.Ser52_Gly55del | |
| ENST00000472011.6:n.241_252del | ||
| ENST00000543662.4:c.155_166del | ENSP00000439170.1:p.Ser52_Gly55del | |
| ENST00000642339.1:c.101-12876_101-12865del | ENSP00000495425.1:n.101-12876_101-12865del | |
| ENST00000642372.1:c.151_162del | ||
| ENST00000642431.1:c.732_743del | ||
| ENST00000642463.1:c.155_166del | ENSP00000495007.1:p.Ser52_Gly55del | |
| ENST00000642503.1:c.101-12876_101-12865del | ENSP00000494334.1:n.101-12876_101-12865del | |
| ENST00000642610.2:c.155_166del MANE Select | ENSP00000494796.1:p.Ser52_Gly55del | |
| ENST00000642926.1:n.217-12876_217-12865del | ||
| ENST00000643125.1:c.155_166del | ENSP00000494102.1:p.Ser52_Gly55del | |
| ENST00000643142.1:c.155_166del | ENSP00000494755.1:p.Ser52_Gly55del | |
| ENST00000643238.1:c.155_166del | ENSP00000495916.1:p.Ser52_Gly55del | |
| ENST00000643410.1:c.155_166del | ENSP00000495030.1:p.Ser52_Gly55del | |
| ENST00000643418.1:c.101-12876_101-12865del | ENSP00000495711.1:n.101-12876_101-12865del | |
| ENST00000643524.1:c.101-12876_101-12865del | ENSP00000494026.1:n.101-12876_101-12865del | |
| ENST00000643615.1:c.101-12876_101-12865del | ENSP00000496103.1:n.101-12876_101-12865del | |
| ENST00000643758.1:c.155_166del | ENSP00000496048.1:p.Ser52_Gly55del | |
| ENST00000643993.1:n.198_209del | ||
| ENST00000643994.1:c.101-12876_101-12865del | ENSP00000496322.1:n.101-12876_101-12865del | |
| ENST00000644037.1:c.155_166del | ENSP00000496408.1:p.Ser52_Gly55del | |
| ENST00000644055.1:c.*554_*565del | ENSP00000496307.1:n.*554_*565del | |
| ENST00000644217.1:c.155_166del | ENSP00000494646.1:p.Ser52_Gly55del | |
| ENST00000644265.1:c.39_50del | ||
| ENST00000644578.1:c.155_166del | ENSP00000495953.1:p.Ser52_Gly55del | |
| ENST00000644604.1:c.155_166del | ENSP00000495961.1:p.Ser52_Gly55del | |
| ENST00000644625.1:n.261_272del | ||
| ENST00000644680.1:c.*676_*687del | ENSP00000496173.1:n.*676_*687del | |
| ENST00000644838.1:c.155_166del | ENSP00000495910.1:p.Ser52_Gly55del | |
| ENST00000645069.1:c.101-12876_101-12865del | ENSP00000496644.1:n.101-12876_101-12865del | |
| ENST00000645205.1:c.155_166del | ENSP00000495823.1:p.Ser52_Gly55del | |
| ENST00000645351.1:c.155_166del | ENSP00000494319.1:p.Ser52_Gly55del | |
| ENST00000645372.1:c.100+21408_100+21419del | ENSP00000496612.1:n.100+21408_100+21419del | |
| ENST00000645551.1:c.155_166del | ENSP00000495928.1:p.Ser52_Gly55del | |
| ENST00000645578.1:c.101-12876_101-12865del | ENSP00000496495.1:n.101-12876_101-12865del | |
| ENST00000645582.1:c.101-12876_101-12865del | ENSP00000494980.1:n.101-12876_101-12865del | |
| ENST00000645655.1:c.155_166del | ENSP00000495202.1:p.Ser52_Gly55del | |
| ENST00000645662.1:c.101-12876_101-12865del | ENSP00000495964.1:n.101-12876_101-12865del | |
| ENST00000645836.1:c.101-12876_101-12865del | ENSP00000493915.1:n.101-12876_101-12865del | |
| ENST00000645899.1:c.155_166del | ENSP00000496773.1:p.Ser52_Gly55del | |
| ENST00000645964.1:c.155_166del | ENSP00000494208.1:p.Ser52_Gly55del | |
| ENST00000646104.1:c.101-12876_101-12865del | ENSP00000495475.1:n.101-12876_101-12865del | |
| ENST00000646186.1:c.155_166del | ENSP00000493806.1:p.Ser52_Gly55del | |
| ENST00000646281.1:c.155_166del | ENSP00000495225.1:p.Ser52_Gly55del | |
| ENST00000646286.1:c.101-12319_101-12308del | ENSP00000494291.1:n.101-12319_101-12308del | |
| ENST00000646384.1:n.309_320del | ||
| ENST00000646463.1:c.155_166del | ENSP00000494541.1:p.Ser52_Gly55del | |
| ENST00000646528.1:c.*589_*600del | ENSP00000496553.1:n.*589_*600del | |
| ENST00000646536.1:c.155_166del | ENSP00000494801.1:p.Ser52_Gly55del | |
| ENST00000646624.1:c.155_166del | ENSP00000494575.1:p.Ser52_Gly55del | |
| ENST00000646821.1:c.155_166del | ENSP00000495257.1:p.Ser52_Gly55del | |
| ENST00000646848.1:c.155_166del | ENSP00000495831.1:p.Ser52_Gly55del | |
| ENST00000646929.1:c.78-12876_78-12865del | ||
| ENST00000647186.1:c.155_166del | ENSP00000494775.1:p.Ser52_Gly55del | |
| ENST00000647233.1:n.271_282del | ||
| ENST00000647332.1:c.101-12876_101-12865del | ENSP00000495024.1:n.101-12876_101-12865del | |
| ENST00000647407.1:c.101-12876_101-12865del | ENSP00000495319.1:n.101-12876_101-12865del | |
| ENST00000647418.1:c.101-12876_101-12865del | ENSP00000493552.1:n.101-12876_101-12865del | |
| ENST00000647428.1:c.-210-12876_-210-12865del | ENSP00000495630.1:n.-210-12876_-210-12865del | |
| ENST00000647489.1:c.101-12876_101-12865del | ENSP00000494232.1:n.101-12876_101-12865del | |
| ENST00000651186.1:c.-210-12876_-210-12865del | ENSP00000498645.1:n.-210-12876_-210-12865del | |
| ENST00000366601.7:c.155_166del | ENSP00000355560.3:p.Ser52_Gly55del | |
| ENST00000406207.4:c.155_166del | ENSP00000384571.1:p.Ser52_Gly55del | |
| ENST00000472011.5:n.182-12876_182-12865del | ||
| ENST00000482230.5:n.314_325del | ||
| ENST00000543662.3:c.155_166del | ENSP00000439170.1:p.Ser52_Gly55del | |
| NM_001079515.2:c.155_166del | NP_001072983.1:p.Ser52_Gly55del | |
| NM_001287801.1:c.155_166del | NP_001274730.1:p.Ser52_Gly55del | |
| NM_001287802.1:c.-210-12876_-210-12865del | NP_001274731.1:n.-210-12876_-210-12865del | |
| NM_003193.4:c.155_166del | NP_003184.1:p.Ser52_Gly55del | |
| NM_003193.5:c.155_166del MANE Select | NP_003184.1:p.Ser52_Gly55del | |
| NM_001079515.3:c.155_166del | NP_001072983.1:p.Ser52_Gly55del | |
| NM_001287801.2:c.155_166del | NP_001274730.1:p.Ser52_Gly55del | |
| NM_001287802.2:c.-210-12876_-210-12865del | NP_001274731.1:n.-210-12876_-210-12865del |