Linked Data
dbSNP Id:
rs1567633925
gnomAD v2:
17-6328629-T-TTG
gnomAD v3:
17-6425309-T-TTG
gnomAD v4:
17-6425309-T-TTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425310_6425311insGT , CM000679.2:g.6425310_6425311insGT | GRCh38 |
| NC_000017.10:g.6328630_6328631insGT , CM000679.1:g.6328630_6328631insGT | GRCh37 |
| NC_000017.9:g.6269354_6269355insGT | NCBI36 |
| NG_008474.1:g.14890_14891insCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.*150_*151insCA MANE Select | ENSP00000370521.3:n.*150_*151insCA | |
| ENST00000250087.9:c.*150_*151insCA | ENSP00000250087.5:n.*150_*151insCA | |
| ENST00000381128.2:c.*1177_*1178insCA | ENSP00000370520.2:n.*1177_*1178insCA | |
| ENST00000381129.7:c.*150_*151insCA | ENSP00000370521.3:n.*150_*151insCA | |
| ENST00000570584.5:c.251+8609_251+8610insCA | ||
| ENST00000574506.5:c.*150_*151insCA | ENSP00000458456.1:n.*150_*151insCA | |
| ENST00000575265.5:c.*1276_*1277insCA | ENSP00000459673.1:n.*1276_*1277insCA | |
| NM_001033054.2:c.*150_*151insCA | NP_001028226.1:n.*150_*151insCA | |
| NM_001033055.2:c.*150_*151insCA | NP_001028227.1:n.*150_*151insCA | |
| NM_001285399.2:c.*150_*151insCA | NP_001272328.1:n.*150_*151insCA | |
| NM_001285400.2:c.*150_*151insCA | NP_001272329.1:n.*150_*151insCA | |
| NM_001285401.2:c.*150_*151insCA | NP_001272330.1:n.*150_*151insCA | |
| NM_001285402.1:c.*150_*151insCA | NP_001272331.1:n.*150_*151insCA | |
| NM_014336.4:c.*150_*151insCA | NP_055151.3:n.*150_*151insCA | |
| NM_001033054.3:c.*150_*151insCA | NP_001028226.1:n.*150_*151insCA | |
| NM_001033055.3:c.*150_*151insCA | NP_001028227.1:n.*150_*151insCA | |
| NM_001285399.3:c.*150_*151insCA | NP_001272328.1:n.*150_*151insCA | |
| NM_001285400.3:c.*150_*151insCA | NP_001272329.1:n.*150_*151insCA | |
| NM_001285401.3:c.*150_*151insCA | NP_001272330.1:n.*150_*151insCA | |
| NM_001285402.2:c.*150_*151insCA | NP_001272331.1:n.*150_*151insCA | |
| NM_001285403.3:c.*1276_*1277insCA | NP_001272332.1:n.*1276_*1277insCA | |
| NM_014336.5:c.*150_*151insCA MANE Select | NP_055151.3:n.*150_*151insCA | |
| NM_001285403.4:c.*1276_*1277insCA | NP_001272332.1:n.*1276_*1277insCA |