Linked Data
ClinVar Variation Id:
1214367
ClinVar RCV Id:
RCV001582101
dbSNP Id:
rs559207960
gnomAD v2:
9-107591112-AT-A
gnomAD v3:
9-104828831-AT-A
gnomAD v4:
9-104828831-AT-A
COSMIC:
COSN18733739
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104828839del , CM000671.2:g.104828839del | GRCh38 |
| NC_000009.11:g.107591120del , CM000671.1:g.107591120del | GRCh37 |
| NC_000009.10:g.106630941del | NCBI36 |
| NG_007981.1:g.104324del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.2115+84del MANE Select | ENSP00000363868.3:n.2115+84del | |
| ENST00000678995.1:c.2115+84del | ENSP00000504612.1:n.2115+84del | |
| ENST00000374736.7:c.2115+84del | ENSP00000363868.3:n.2115+84del | |
| ENST00000494467.1:n.288+84del | ||
| NM_005502.3:c.2115+84del | NP_005493.2:n.2115+84del | |
| XM_005251773.1:c.2115+84del | XP_005251830.1:n.2115+84del | |
| XM_005251776.1:c.1935+84del | XP_005251833.1:n.1935+84del | |
| XM_011518339.1:c.2190+84del | XP_011516641.1:n.2190+84del | |
| XM_011518340.1:c.2190+84del | XP_011516642.1:n.2190+84del | |
| XM_011518341.1:c.2190+84del | XP_011516643.1:n.2190+84del | |
| XM_011518342.1:c.1752+84del | XP_011516644.1:n.1752+84del | |
| XM_011518343.1:c.2190+84del | XP_011516645.1:n.2190+84del | |
| XM_011518344.1:c.2190+84del | XP_011516646.1:n.2190+84del | |
| XM_005251773.3:c.2115+84del | XP_005251830.1:n.2115+84del | |
| XM_005251776.3:c.1935+84del | XP_005251833.1:n.1935+84del | |
| XM_011518339.3:c.2190+84del | XP_011516641.1:n.2190+84del | |
| XM_011518340.3:c.2190+84del | XP_011516642.1:n.2190+84del | |
| XM_011518341.3:c.2190+84del | XP_011516643.1:n.2190+84del | |
| XM_011518342.3:c.1752+84del | XP_011516644.1:n.1752+84del | |
| XM_011518344.2:c.2190+84del | XP_011516646.1:n.2190+84del | |
| XM_017014378.2:c.2190+84del | XP_016869867.1:n.2190+84del | |
| XM_017014379.2:c.2190+84del | XP_016869868.1:n.2190+84del | |
| XM_017014380.2:c.2190+84del | XP_016869869.1:n.2190+84del | |
| XM_017014381.2:c.2190+84del | XP_016869870.1:n.2190+84del | |
| XM_017014382.2:c.2052+84del | XP_016869871.1:n.2052+84del | |
| XR_001746223.1:n.2503+84del | ||
| NM_005502.4:c.2115+84del MANE Select | NP_005493.2:n.2115+84del |