Linked Data
dbSNP Id:
rs1390363142
gnomAD v3:
14-50944425-GGCGGGCTGCGCA-G
gnomAD v4:
14-50944425-GGCGGGCTGCGCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50944427_50944438del , CM000676.2:g.50944427_50944438del | GRCh38 |
| NC_000014.8:g.51411145_51411156del , CM000676.1:g.51411145_51411156del | GRCh37 |
| NC_000014.7:g.50480895_50480906del | NCBI36 |
| NG_012796.1:g.5094_5105del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.-34_-23del MANE Select | ENSP00000216392.7:n.-34_-23del | |
| ENST00000216392.7:c.-34_-23del | ENSP00000216392.7:n.-34_-23del | |
| ENST00000530336.2:n.34_45del | ||
| ENST00000532462.5:c.-34_-23del | ENSP00000431657.1:n.-34_-23del | |
| ENST00000544180.6:c.-34_-23del | ENSP00000443787.1:n.-34_-23del | |
| NM_001163940.1:c.-34_-23del | NP_001157412.1:n.-34_-23del | |
| NM_002863.4:c.-34_-23del | NP_002854.3:n.-34_-23del | |
| NM_002863.5:c.-34_-23del MANE Select | NP_002854.3:n.-34_-23del | |
| NM_001163940.2:c.-34_-23del | NP_001157412.1:n.-34_-23del |