Linked Data
ClinVar Variation Id:
224667
dbSNP Id:
rs878854367
gnomAD v4:
11-22226040-AG-A
PubMed:
PMID:27854218
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22226041del , CM000673.2:g.22226041del | GRCh38 |
| NC_000011.9:g.22247587del , CM000673.1:g.22247587del | GRCh37 |
| NC_000011.8:g.22204163del | NCBI36 |
| NG_015844.1:g.37866del , LRG_868:g.37866del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682266.1:c.-99del | ENSP00000507766.1:n.-99del | |
| ENST00000682341.1:c.310del | ENSP00000508251.1:p.Glu104LysfsTer23 | |
| ENST00000682530.1:c.*284del | ENSP00000506805.1:n.*284del | |
| ENST00000682684.1:n.731del | ||
| ENST00000683197.1:c.310del | ENSP00000507641.1:p.Glu104LysfsTer23 | |
| ENST00000683411.1:c.-99del | ENSP00000508397.1:n.-99del | |
| ENST00000683437.1:c.-99del | ENSP00000508408.1:n.-99del | |
| ENST00000683613.1:n.1346del | ||
| ENST00000683834.1:n.552del | ||
| ENST00000684663.1:c.307del | ENSP00000508009.1:p.Glu103LysfsTer23 | |
| ENST00000324559.9:c.352del MANE Select | ENSP00000315371.9:p.Glu118LysfsTer23 | |
| ENST00000648804.1:n.917del | ||
| ENST00000324559.8:c.352del | ENSP00000315371.8:p.Glu118LysfsTer23 | |
| NM_001142649.1:c.349del | NP_001136121.1:p.Glu117LysfsTer23 | |
| NM_213599.2:c.352del , LRG_868t1:c.352del | NP_998764.1:p.Glu118LysfsTer23 | |
| XM_005252820.2:c.310del | XP_005252877.2:p.Glu104LysfsTer23 | |
| XM_005252821.2:c.307del | XP_005252878.2:p.Glu103LysfsTer23 | |
| XM_005252822.3:c.274del | XP_005252879.1:p.Glu92LysfsTer23 | |
| XM_005252823.3:c.271del | XP_005252880.1:p.Glu91LysfsTer23 | |
| XM_011519949.1:c.259del | XP_011518251.1:p.Glu87LysfsTer23 | |
| XM_005252820.3:c.310del | XP_005252877.2:p.Glu104LysfsTer23 | |
| XM_005252821.3:c.307del | XP_005252878.2:p.Glu103LysfsTer23 | |
| XM_005252822.4:c.274del | XP_005252879.1:p.Glu92LysfsTer23 | |
| XM_011519949.2:c.259del | XP_011518251.1:p.Glu87LysfsTer23 | |
| NM_001142649.2:c.349del | NP_001136121.1:p.Glu117LysfsTer23 | |
| NM_213599.3:c.352del MANE Select | NP_998764.1:p.Glu118LysfsTer23 |