Linked Data
dbSNP Id:
rs750026882
gnomAD v2:
17-6328634-T-TTG
gnomAD v3:
17-6425314-T-TTG
gnomAD v4:
17-6425314-T-TTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425315_6425316insGT , CM000679.2:g.6425315_6425316insGT | GRCh38 |
| NC_000017.10:g.6328635_6328636insGT , CM000679.1:g.6328635_6328636insGT | GRCh37 |
| NC_000017.9:g.6269359_6269360insGT | NCBI36 |
| NG_008474.1:g.14885_14886insCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.*145_*146insCA MANE Select | ENSP00000370521.3:n.*145_*146insCA | |
| ENST00000250087.9:c.*145_*146insCA | ENSP00000250087.5:n.*145_*146insCA | |
| ENST00000381128.2:c.*1172_*1173insCA | ENSP00000370520.2:n.*1172_*1173insCA | |
| ENST00000381129.7:c.*145_*146insCA | ENSP00000370521.3:n.*145_*146insCA | |
| ENST00000570584.5:c.251+8604_251+8605insCA | ||
| ENST00000574506.5:c.*145_*146insCA | ENSP00000458456.1:n.*145_*146insCA | |
| ENST00000575265.5:c.*1271_*1272insCA | ENSP00000459673.1:n.*1271_*1272insCA | |
| NM_001033054.2:c.*145_*146insCA | NP_001028226.1:n.*145_*146insCA | |
| NM_001033055.2:c.*145_*146insCA | NP_001028227.1:n.*145_*146insCA | |
| NM_001285399.2:c.*145_*146insCA | NP_001272328.1:n.*145_*146insCA | |
| NM_001285400.2:c.*145_*146insCA | NP_001272329.1:n.*145_*146insCA | |
| NM_001285401.2:c.*145_*146insCA | NP_001272330.1:n.*145_*146insCA | |
| NM_001285402.1:c.*145_*146insCA | NP_001272331.1:n.*145_*146insCA | |
| NM_014336.4:c.*145_*146insCA | NP_055151.3:n.*145_*146insCA | |
| NM_001033054.3:c.*145_*146insCA | NP_001028226.1:n.*145_*146insCA | |
| NM_001033055.3:c.*145_*146insCA | NP_001028227.1:n.*145_*146insCA | |
| NM_001285399.3:c.*145_*146insCA | NP_001272328.1:n.*145_*146insCA | |
| NM_001285400.3:c.*145_*146insCA | NP_001272329.1:n.*145_*146insCA | |
| NM_001285401.3:c.*145_*146insCA | NP_001272330.1:n.*145_*146insCA | |
| NM_001285402.2:c.*145_*146insCA | NP_001272331.1:n.*145_*146insCA | |
| NM_001285403.3:c.*1271_*1272insCA | NP_001272332.1:n.*1271_*1272insCA | |
| NM_014336.5:c.*145_*146insCA MANE Select | NP_055151.3:n.*145_*146insCA | |
| NM_001285403.4:c.*1271_*1272insCA | NP_001272332.1:n.*1271_*1272insCA |