Linked Data
ClinVar Variation Id:
237041
dbSNP Id:
rs577636020
ExAC:
16:89831481 CAG / C
gnomAD v2:
16-89831481-CAG-C
gnomAD v3:
16-89765073-CAG-C
gnomAD v4:
16-89765073-CAG-C
COSMIC:
COSM5019368
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89765078_89765079del , CM000678.2:g.89765078_89765079del | GRCh38 |
| NC_000016.9:g.89831486_89831487del , CM000678.1:g.89831486_89831487del | GRCh37 |
| NC_000016.8:g.88358987_88358988del | NCBI36 |
| NG_011706.1:g.56583_56584del , LRG_495:g.56583_56584del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*1096-9_*1096-8del | ENSP00000512522.1:n.*1096-9_*1096-8del | |
| ENST00000564475.6:c.2602-9_2602-8del | ENSP00000454977.2:n.2602-9_2602-8del | |
| ENST00000567510.2:c.1301-9_1301-8del | ENSP00000455969.1:n.1301-9_1301-8del | |
| ENST00000568369.6:c.2602-9_2602-8del | ENSP00000456829.1:n.2602-9_2602-8del | |
| ENST00000696274.1:n.2563-9_2563-8del | ||
| ENST00000696275.1:c.*1837-9_*1837-8del | ENSP00000512517.1:n.*1837-9_*1837-8del | |
| ENST00000696276.1:n.2645-9_2645-8del | ||
| ENST00000696286.1:c.2602-9_2602-8del | ENSP00000512523.1:n.2602-9_2602-8del | |
| ENST00000696287.1:c.2602-9_2602-8del | ENSP00000512524.1:n.2602-9_2602-8del | |
| ENST00000696291.1:c.*2322-9_*2322-8del | ENSP00000512530.1:n.*2322-9_*2322-8del | |
| ENST00000389301.8:c.2602-9_2602-8del MANE Select | ENSP00000373952.3:n.2602-9_2602-8del | |
| ENST00000389301.7:c.2602-9_2602-8del | ENSP00000373952.3:n.2602-9_2602-8del | |
| ENST00000563318.1:c.8-9_8-8del | ||
| ENST00000568369.5:c.2602-9_2602-8del | ENSP00000456829.1:n.2602-9_2602-8del | |
| NM_000135.2:c.2602-9_2602-8del , LRG_495t1:c.2602-9_2602-8del | NP_000126.2:n.2602-9_2602-8del | |
| NM_001286167.1:c.2602-9_2602-8del | NP_001273096.1:n.2602-9_2602-8del | |
| XM_005256294.3:c.2602-9_2602-8del | XP_005256351.1:n.2602-9_2602-8del | |
| XM_011522945.1:c.2602-9_2602-8del | XP_011521247.1:n.2602-9_2602-8del | |
| XM_011522946.1:c.1579-9_1579-8del | XP_011521248.1:n.1579-9_1579-8del | |
| XM_011522947.1:c.1579-9_1579-8del | XP_011521249.1:n.1579-9_1579-8del | |
| XR_933244.1:n.2645-9_2645-8del | ||
| XR_933245.1:n.2645-9_2645-8del | ||
| XR_933246.1:n.2645-9_2645-8del | ||
| NM_000135.3:c.2602-9_2602-8del | NP_000126.2:n.2602-9_2602-8del | |
| NM_001286167.2:c.2602-9_2602-8del | NP_001273096.1:n.2602-9_2602-8del | |
| XM_005256294.4:c.2602-9_2602-8del | XP_005256351.1:n.2602-9_2602-8del | |
| XM_011522945.2:c.2602-9_2602-8del | XP_011521247.1:n.2602-9_2602-8del | |
| XM_011522946.3:c.1579-9_1579-8del | XP_011521248.1:n.1579-9_1579-8del | |
| XM_011522947.2:c.1579-9_1579-8del | XP_011521249.1:n.1579-9_1579-8del | |
| XM_017023044.2:c.2602-9_2602-8del | XP_016878533.1:n.2602-9_2602-8del | |
| XM_017023045.1:c.2602-9_2602-8del | XP_016878534.1:n.2602-9_2602-8del | |
| XM_024450189.1:c.1579-9_1579-8del | XP_024305957.1:n.1579-9_1579-8del | |
| XR_001751866.1:n.2645-9_2645-8del | ||
| XR_933244.2:n.2645-9_2645-8del | ||
| XR_933245.2:n.2645-9_2645-8del | ||
| XR_933247.2:n.2774-9_2774-8del | ||
| NM_000135.4:c.2602-9_2602-8del MANE Select | NP_000126.2:n.2602-9_2602-8del | |
| NM_001286167.3:c.2602-9_2602-8del | NP_001273096.1:n.2602-9_2602-8del |