Linked Data
dbSNP Id:
rs1265028963
gnomAD v2:
5-35867321-AC-A
gnomAD v3:
5-35867219-AC-A
gnomAD v4:
5-35867219-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35867220del , CM000667.2:g.35867220del | GRCh38 |
| NC_000005.9:g.35867322del , CM000667.1:g.35867322del | GRCh37 |
| NC_000005.8:g.35903079del | NCBI36 |
| NG_009567.1:g.15332del , LRG_74:g.15332del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.222-86del MANE Select | ENSP00000306157.3:n.222-86del | |
| ENST00000303115.7:c.222-86del | ENSP00000306157.3:n.222-86del | |
| ENST00000506850.5:c.222-86del | ENSP00000421207.1:n.222-86del | |
| ENST00000511031.1:n.356-86del | ||
| ENST00000511982.1:c.222-86del | ENSP00000425309.1:n.222-86del | |
| ENST00000514217.5:c.222-86del | ENSP00000427688.1:n.222-86del | |
| NM_002185.3:c.222-86del | NP_002176.2:n.222-86del | |
| NR_120485.1:n.325-86del | ||
| XM_005248299.2:c.222-86del | XP_005248356.1:n.222-86del | |
| XM_005248300.1:c.222-86del | XP_005248357.1:n.222-86del | |
| XM_011514037.1:c.222-86del | XP_011512339.1:n.222-86del | |
| NM_002185.4:c.222-86del | NP_002176.2:n.222-86del | |
| NR_120485.2:n.351-86del | ||
| XM_005248299.4:c.222-86del | XP_005248356.1:n.222-86del | |
| NM_002185.5:c.222-86del MANE Select | NP_002176.2:n.222-86del | |
| NR_120485.3:n.309-86del |