Linked Data
ClinVar Variation Id:
180037
dbSNP Id:
rs727505303
ExAC:
9:289590 CT / C
gnomAD v2:
9-289590-CT-C
gnomAD v3:
9-289590-CT-C
gnomAD v4:
9-289590-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.289597del , CM000671.2:g.289597del | GRCh38 |
| NC_000009.11:g.289597del , CM000671.1:g.289597del | GRCh37 |
| NC_000009.10:g.279597del | NCBI36 |
| NG_017007.1:g.79733del , LRG_196:g.79733del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.200+16del | ENSP00000371766.2:n.200+16del | |
| ENST00000483757.6:c.200+16del | ENSP00000417691.2:n.200+16del | |
| ENST00000682121.1:n.429del | ||
| ENST00000682249.1:c.200+16del | ENSP00000507731.1:n.200+16del | |
| ENST00000684166.1:n.529del | ||
| ENST00000684384.1:n.513+16del | ||
| ENST00000432829.7:c.404+16del MANE Select | ENSP00000394888.3:n.404+16del | |
| ENST00000382341.5:n.299+16del | ||
| ENST00000432829.6:c.404+16del | ENSP00000394888.3:n.404+16del | |
| ENST00000453981.5:c.200+16del | ENSP00000408464.2:n.200+16del | |
| ENST00000454469.6:n.513+16del | ||
| ENST00000469391.5:c.200+16del | ENSP00000419438.1:n.200+16del | |
| ENST00000478380.5:n.283+16del | ||
| ENST00000483757.5:c.200+16del | ENSP00000417691.1:n.200+16del | |
| ENST00000487230.5:c.200+16del | ENSP00000418318.1:n.200+16del | |
| ENST00000495184.5:n.265+16del | ||
| ENST00000524396.5:c.*367+16del | ENSP00000436628.1:n.*367+16del | |
| NM_001190458.1:c.200+16del | NP_001177387.1:n.200+16del | |
| NM_001193536.1:c.200+16del | NP_001180465.1:n.200+16del | |
| NM_203447.3:c.404+16del , LRG_196t1:c.404+16del | NP_982272.2:n.404+16del | |
| XM_011518045.1:c.200+16del | XP_011516347.1:n.200+16del | |
| XM_011518046.1:c.266+16del | XP_011516348.1:n.266+16del | |
| XM_011518047.1:c.200+16del | XP_011516349.1:n.200+16del | |
| XM_011518048.1:c.200+16del | XP_011516350.1:n.200+16del | |
| XM_011518045.3:c.200+16del | XP_011516347.1:n.200+16del | |
| XM_011518046.2:c.266+16del | XP_011516348.1:n.266+16del | |
| XM_011518047.3:c.200+16del | XP_011516349.1:n.200+16del | |
| XM_011518048.2:c.200+16del | XP_011516350.1:n.200+16del | |
| XM_017015173.1:c.200+16del | XP_016870662.1:n.200+16del | |
| XM_017015174.1:c.266+16del | XP_016870663.1:n.266+16del | |
| NM_001190458.2:c.200+16del | NP_001177387.1:n.200+16del | |
| NM_001193536.2:c.200+16del | NP_001180465.1:n.200+16del | |
| NM_203447.4:c.404+16del MANE Select | NP_982272.2:n.404+16del |