Linked Data
ClinVar Variation Id:
1216141
ClinVar RCV Id:
RCV001593804
dbSNP Id:
rs1191458952
gnomAD v2:
1-27023155-AGCCGGCAGCGGCGGC-A
gnomAD v3:
1-26696664-AGCCGGCAGCGGCGGC-A
gnomAD v4:
1-26696664-AGCCGGCAGCGGCGGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696666_26696680del , CM000663.2:g.26696666_26696680del | GRCh38 |
| NC_000001.10:g.27023157_27023171del , CM000663.1:g.27023157_27023171del | GRCh37 |
| NC_000001.9:g.26895744_26895758del | NCBI36 |
| NG_029965.1:g.5636_5650del , LRG_875:g.5636_5650del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.263_277del MANE Select | ENSP00000320485.7:p.Ala88_Gly92del | |
| ENST00000430799.7:c.-13+3049_-13+3063del | ENSP00000390317.3:n.-13+3049_-13+3063del | |
| ENST00000637465.1:c.-13+566_-13+580del | ENSP00000490650.1:n.-13+566_-13+580del | |
| ENST00000324856.11:c.263_277del | ENSP00000320485.7:p.Ala88_Gly92del | |
| ENST00000457599.6:c.263_277del | ENSP00000387636.2:p.Ala88_Gly92del | |
| NM_006015.4:c.263_277del , LRG_875t1:c.263_277del | NP_006006.3:p.Ala88_Gly92del | |
| NM_139135.2:c.263_277del | NP_624361.1:p.Ala88_Gly92del | |
| NM_006015.5:c.263_277del | NP_006006.3:p.Ala88_Gly92del | |
| NM_139135.3:c.263_277del | NP_624361.1:p.Ala88_Gly92del | |
| NM_006015.6:c.263_277del MANE Select | NP_006006.3:p.Ala88_Gly92del | |
| NM_139135.4:c.263_277del | NP_624361.1:p.Ala88_Gly92del |