Linked Data
dbSNP Id:
rs1024658529
gnomAD v2:
13-29233435-TGG-T
gnomAD v3:
13-28659298-TGG-T
gnomAD v4:
13-28659298-TGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659301_28659302del , CM000675.2:g.28659301_28659302del | GRCh38 |
| NC_000013.10:g.29233438_29233439del , CM000675.1:g.29233438_29233439del | GRCh37 |
| NC_000013.9:g.28131438_28131439del | NCBI36 |
| NG_027550.1:g.5298_5299del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697661.1:c.-246+114_-246+115del | ENSP00000513386.1:n.-246+114_-246+115del | |
| ENST00000697662.1:c.-282+114_-282+115del | ENSP00000513387.1:n.-282+114_-282+115del | |
| ENST00000697716.1:c.-83+114_-83+115del | ENSP00000513414.1:n.-83+114_-83+115del | |
| ENST00000697717.1:c.3+114_3+115del | ENSP00000513415.1:n.3+114_3+115del | |
| ENST00000697718.1:c.3+114_3+115del | ENSP00000513416.1:n.3+114_3+115del | |
| ENST00000380842.5:c.3+114_3+115del MANE Select | ENSP00000370222.4:n.3+114_3+115del | |
| ENST00000380842.4:c.3+114_3+115del | ENSP00000370222.4:n.3+114_3+115del | |
| ENST00000460403.1:n.84+114_84+115del | ||
| NM_015932.5:c.3+114_3+115del | NP_057016.1:n.3+114_3+115del | |
| XR_941802.1:n.107_108del | ||
| NM_015932.6:c.3+114_3+115del MANE Select | NP_057016.1:n.3+114_3+115del |