Linked Data
dbSNP Id:
rs1970245063
gnomAD v3:
19-38502825-GGGCAGCAGA-G
gnomAD v4:
19-38502825-GGGCAGCAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38502827_38502835del , CM000681.2:g.38502827_38502835del | GRCh38 |
| NC_000019.9:g.38993467_38993475del , CM000681.1:g.38993467_38993475del | GRCh37 |
| NC_000019.8:g.43685307_43685315del | NCBI36 |
| NG_008866.1:g.74128_74136del , LRG_766:g.74128_74136del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7836-53_7836-45del | ENSP00000471601.2:n.7836-53_7836-45del | |
| ENST00000359596.8:c.7836-53_7836-45del MANE Select | ENSP00000352608.2:n.7836-53_7836-45del | |
| ENST00000355481.8:c.7836-53_7836-45del | ENSP00000347667.3:n.7836-53_7836-45del | |
| ENST00000359596.7:c.7836-53_7836-45del | ENSP00000352608.2:n.7836-53_7836-45del | |
| ENST00000360985.7:c.7833-53_7833-45del | ENSP00000354254.4:n.7833-53_7833-45del | |
| ENST00000594335.5:c.1288-53_1288-45del | ||
| NM_000540.2:c.7836-53_7836-45del , LRG_766t1:c.7836-53_7836-45del | NP_000531.2:n.7836-53_7836-45del | |
| NM_001042723.1:c.7836-53_7836-45del | NP_001036188.1:n.7836-53_7836-45del | |
| XM_006723317.1:c.7836-53_7836-45del | XP_006723380.1:n.7836-53_7836-45del | |
| XM_006723319.1:c.7836-53_7836-45del | XP_006723382.1:n.7836-53_7836-45del | |
| XM_011527204.1:c.7833-53_7833-45del | XP_011525506.1:n.7833-53_7833-45del | |
| XM_011527205.1:c.7836-53_7836-45del | XP_011525507.1:n.7836-53_7836-45del | |
| XM_006723317.2:c.7836-53_7836-45del | XP_006723380.1:n.7836-53_7836-45del | |
| XM_006723319.2:c.7836-53_7836-45del | XP_006723382.1:n.7836-53_7836-45del | |
| XM_011527205.2:c.7836-53_7836-45del | XP_011525507.1:n.7836-53_7836-45del | |
| XR_001753735.1:n.7919-53_7919-45del | ||
| NM_000540.3:c.7836-53_7836-45del MANE Select | NP_000531.2:n.7836-53_7836-45del | |
| NM_001042723.2:c.7836-53_7836-45del | NP_001036188.1:n.7836-53_7836-45del |