Linked Data
ClinVar Variation Id:
440455
dbSNP Id:
rs730881599
ExAC:
13:32972745 C / CT
gnomAD v2:
13-32972745-C-CT
gnomAD v3:
13-32398608-C-CT
gnomAD v4:
13-32398608-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398608_32398609insT , CM000675.2:g.32398608_32398609insT | GRCh38 |
| NC_000013.10:g.32972745_32972746insT , CM000675.1:g.32972745_32972746insT | GRCh37 |
| NC_000013.9:g.31870745_31870746insT | NCBI36 |
| NG_012772.3:g.88129_88130insT , LRG_293:g.88129_88130insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*618_*619insT | ENSP00000434898.2:n.*618_*619insT | |
| ENST00000528762.2:c.*1462_*1463insT | ENSP00000433168.2:n.*1462_*1463insT | |
| ENST00000530893.7:c.9726_9727insT | ENSP00000499438.2:p.Ser3243Ter | |
| ENST00000665585.2:c.*1657_*1658insT | ENSP00000499570.2:n.*1657_*1658insT | |
| ENST00000700202.2:c.10044_10045insT | ENSP00000514856.2:p.Ser3349Ter | |
| ENST00000700202.1:c.2511_2512insT | ENSP00000514856.1:p.Ser838Ter | |
| ENST00000700203.1:n.2222_2223insT | ||
| ENST00000380152.8:c.10095_10096insT MANE Select | ENSP00000369497.3:p.Ser3366Ter | |
| ENST00000544455.6:c.10095_10096insT | ENSP00000439902.1:p.Ser3366Ter | |
| ENST00000614259.2:c.10103_10104insT | ENSP00000506251.1:n.10103_10104insT | |
| ENST00000680887.1:c.10095_10096insT | ENSP00000505508.1:p.Ser3366Ter | |
| ENST00000380152.7:c.10095_10096insT | ENSP00000369497.3:p.Ser3366Ter | |
| ENST00000544455.5:c.10095_10096insT | ENSP00000439902.1:p.Ser3366Ter | |
| NM_000059.3:c.10095_10096insT , LRG_293t1:c.10095_10096insT | NP_000050.2:p.Ser3366Ter | |
| XM_011535203.1:c.10095_10096insT | XP_011533505.1:p.Ser3366Ter | |
| XM_011535204.1:c.9999_10000insT | XP_011533506.1:p.Ser3334Ter | |
| NM_000059.4:c.10095_10096insT MANE Select | NP_000050.3:p.Ser3366Ter |