Linked Data
dbSNP Id:
rs902983074
gnomAD v2:
20-32883063-CGAGT-C
gnomAD v3:
20-34295257-CGAGT-C
gnomAD v4:
20-34295257-CGAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34295261_34295264del , CM000682.2:g.34295261_34295264del | GRCh38 |
| NC_000020.10:g.32883067_32883070del , CM000682.1:g.32883067_32883070del | GRCh37 |
| NC_000020.9:g.32346728_32346731del | NCBI36 |
| NG_012630.1:g.21542_21545del | |
| NG_012630.2:g.21542_21545del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217426.7:c.219+134_219+137del MANE Select | ENSP00000217426.2:n.219+134_219+137del | |
| ENST00000217426.6:c.219+134_219+137del | ENSP00000217426.2:n.219+134_219+137del | |
| ENST00000468908.1:n.382+134_382+137del | ||
| ENST00000480653.5:n.266+134_266+137del | ||
| ENST00000538132.1:c.135+134_135+137del | ENSP00000442820.1:n.135+134_135+137del | |
| ENST00000606061.1:n.440_443del | ||
| NM_000687.2:c.219+134_219+137del | NP_000678.1:n.219+134_219+137del | |
| NM_001161766.1:c.135+134_135+137del | NP_001155238.1:n.135+134_135+137del | |
| XM_005260316.3:c.135+134_135+137del | XP_005260373.1:n.135+134_135+137del | |
| XM_005260317.1:c.135+134_135+137del | XP_005260374.1:n.135+134_135+137del | |
| XM_011528656.1:c.135+134_135+137del | XP_011526958.1:n.135+134_135+137del | |
| XM_011528657.1:c.135+134_135+137del | XP_011526959.1:n.135+134_135+137del | |
| XM_011528658.1:c.135+134_135+137del | XP_011526960.1:n.135+134_135+137del | |
| XM_011528659.1:c.135+134_135+137del | XP_011526961.1:n.135+134_135+137del | |
| XM_011528660.1:c.135+134_135+137del | XP_011526962.1:n.135+134_135+137del | |
| NM_000687.3:c.219+134_219+137del | NP_000678.1:n.219+134_219+137del | |
| NM_001322084.1:c.135+134_135+137del | NP_001309013.1:n.135+134_135+137del | |
| NM_001322085.1:c.135+134_135+137del | NP_001309014.1:n.135+134_135+137del | |
| NM_001322086.1:c.225+134_225+137del | NP_001309015.1:n.225+134_225+137del | |
| NM_001362750.1:c.219+134_219+137del | NP_001349679.1:n.219+134_219+137del | |
| XM_005260317.2:c.135+134_135+137del | XP_005260374.1:n.135+134_135+137del | |
| XM_011528656.3:c.225+134_225+137del | XP_011526958.2:n.225+134_225+137del | |
| XM_011528657.2:c.225+134_225+137del | XP_011526959.2:n.225+134_225+137del | |
| XM_011528658.3:c.225+134_225+137del | XP_011526960.2:n.225+134_225+137del | |
| XM_017027709.2:c.219+134_219+137del | XP_016883198.1:n.219+134_219+137del | |
| XM_017027710.2:c.-206+134_-206+137del | XP_016883199.1:n.-206+134_-206+137del | |
| NM_000687.4:c.219+134_219+137del MANE Select | NP_000678.1:n.219+134_219+137del | |
| NM_001322084.2:c.135+134_135+137del | NP_001309013.1:n.135+134_135+137del | |
| NM_001322085.2:c.135+134_135+137del | NP_001309014.1:n.135+134_135+137del | |
| NM_001322086.2:c.225+134_225+137del | NP_001309015.1:n.225+134_225+137del | |
| NM_001362750.2:c.219+134_219+137del | NP_001349679.1:n.219+134_219+137del | |
| NM_001161766.2:c.135+134_135+137del | NP_001155238.1:n.135+134_135+137del |