Linked Data
dbSNP Id:
rs759849314
gnomAD v2:
17-8140667-ATGGCTGAAATGACCCCAGTCCTCACC-A
gnomAD v4:
17-8237349-ATGGCTGAAATGACCCCAGTCCTCACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8237352_8237377del , CM000679.2:g.8237352_8237377del | GRCh38 |
| NC_000017.10:g.8140670_8140695del , CM000679.1:g.8140670_8140695del | GRCh37 |
| NC_000017.9:g.8081395_8081420del | NCBI36 |
| NG_032148.1:g.15721_15746del | |
| NG_032148.2:g.15721_15746del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.792_792+25del | ||
| ENST00000581729.2:c.792_792+25del | ||
| ENST00000581967.2:n.814_814+25del | ||
| ENST00000583254.2:n.206_206+25del | ||
| ENST00000699849.1:c.-106_-106+25del | ||
| ENST00000699850.1:n.56-1033_56-1008del | ||
| ENST00000699851.1:n.814_814+25del | ||
| ENST00000699852.1:c.792_792+25del | ||
| ENST00000699853.1:c.792_792+25del | ||
| ENST00000699854.1:n.585_585+25del | ||
| ENST00000699855.1:n.814_814+25del | ||
| ENST00000699856.1:c.792_792+25del | ||
| ENST00000699857.1:n.800_800+25del | ||
| ENST00000699858.1:c.792_792+25del | ||
| ENST00000699859.1:c.792_792+25del | ||
| ENST00000699861.1:n.814_814+25del | ||
| ENST00000699862.1:n.679_679+25del | ||
| ENST00000449476.7:c.687_687+25del | ||
| ENST00000581671.2:n.633_633+25del | ||
| ENST00000643543.1:c.792_792+25del | ||
| ENST00000651323.1:c.792_792+25del | ||
| ENST00000315684.12:c.792_792+25del | ||
| ENST00000449476.6:c.687_687+25del | ||
| ENST00000581671.1:n.633_633+25del | ||
| NM_025099.5:c.792_792+25del | ||
| NR_046431.1:n.746_746+25del | ||
| XM_006721577.2:c.792_792+25del | ||
| XM_006721578.2:c.792_792+25del | ||
| XM_006721579.2:c.792_792+25del | ||
| XM_011524010.1:c.687_687+25del | ||
| XM_011524011.1:c.-110_-110+25del | ||
| XR_429823.2:n.835_835+25del | ||
| XR_429824.2:n.835_835+25del | ||
| XR_429825.1:n.835_835+25del | ||
| NM_025099.6:c.792_792+25del | ||
| XM_006721577.3:c.792_792+25del | ||
| XM_006721578.3:c.792_792+25del | ||
| XM_011524010.2:c.687_687+25del | ||
| XM_011524011.2:c.-110_-110+25del | ||
| XR_001752639.1:n.835_835+25del | ||
| XR_001752640.1:n.835_835+25del | ||
| XR_001752641.1:n.835_835+25del | ||
| XR_001752642.1:n.835_835+25del | ||
| XR_001752643.1:n.835_835+25del | ||
| XR_001752644.1:n.835_835+25del | ||
| XR_002958073.1:n.835_835+25del | ||
| XR_429823.3:n.835_835+25del | ||
| XR_429824.3:n.835_835+25del | ||
| NR_046431.2:n.707_707+25del |