Linked Data
dbSNP Id:
rs1398918864
gnomAD v2:
3-8787165-AGCGGGTGGCTTCTGTG-A
gnomAD v4:
3-8745479-AGCGGGTGGCTTCTGTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745480_8745495del , CM000665.2:g.8745480_8745495del | GRCh38 |
| NC_000003.11:g.8787166_8787181del , CM000665.1:g.8787166_8787181del | GRCh37 |
| NC_000003.10:g.8762166_8762181del | NCBI36 |
| NG_008797.2:g.16671_16686del , LRG_329:g.16671_16686del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.115-46_115-31del MANE Select | ENSP00000341940.2:n.115-46_115-31del | |
| ENST00000343849.2:c.115-46_115-31del | ENSP00000341940.2:n.115-46_115-31del | |
| ENST00000397368.2:c.115-46_115-31del | ENSP00000380525.2:n.115-46_115-31del | |
| ENST00000472766.1:n.155+11490_155+11505del | ||
| NM_001234.4:c.115-46_115-31del | NP_001225.1:n.115-46_115-31del | |
| NM_033337.2:c.115-46_115-31del , LRG_329t1:c.115-46_115-31del | NP_203123.1:n.115-46_115-31del | |
| NM_001234.5:c.115-46_115-31del | NP_001225.1:n.115-46_115-31del | |
| NM_033337.3:c.115-46_115-31del MANE Select | NP_203123.1:n.115-46_115-31del |