MyVariant.info:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425576_6425599dup , CM000679.2:g.6425576_6425599dup | GRCh38 |
| NC_000017.10:g.6328896_6328919dup , CM000679.1:g.6328896_6328919dup | GRCh37 |
| NC_000017.9:g.6269620_6269643dup | NCBI36 |
| NG_008474.1:g.14614_14637dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.1029_1052dup MANE Select | ENSP00000370521.3:p.Pro351_Ala352insAlaGlnSerSerThrGluProPro | |
| ENST00000250087.9:c.840_863dup | ENSP00000250087.5:p.Pro288_Ala289insAlaGlnSerSerThrGluProPro | |
| ENST00000381128.2:c.*901_*924dup | ENSP00000370520.2:n.*901_*924dup | |
| ENST00000381129.7:c.1029_1052dup | ENSP00000370521.3:p.Pro351_Ala352insAlaGlnSerSerThrGluProPro | |
| ENST00000570466.5:c.963_986dup | ENSP00000461287.1:p.Pro329_Ala330insAlaGlnSerSerThrGluProPro | |
| ENST00000570584.5:c.251+8333_251+8356dup | ||
| ENST00000574506.5:c.993_1016dup | ENSP00000458456.1:p.Pro339_Ala340insAlaGlnSerSerThrGluProPro | |
| ENST00000575265.5:c.*1000_*1023dup | ENSP00000459673.1:n.*1000_*1023dup | |
| ENST00000576307.5:c.849_872dup | ENSP00000459522.1:p.Pro291_Ala292insAlaGlnSerSerThrGluProPro | |
| ENST00000576776.5:c.957_980dup | ENSP00000460827.1:p.Pro327_Ala328insAlaGlnSerSerThrGluProPro | |
| ENST00000621374.4:c.*47_*70dup | ENSP00000481337.1:n.*47_*70dup | |
| NM_001033054.2:c.840_863dup | NP_001028226.1:p.Pro288_Ala289insAlaGlnSerSerThrGluProPro | |
| NM_001033055.2:c.849_872dup | NP_001028227.1:p.Pro291_Ala292insAlaGlnSerSerThrGluProPro | |
| NM_001285399.2:c.993_1016dup | NP_001272328.1:p.Pro339_Ala340insAlaGlnSerSerThrGluProPro | |
| NM_001285400.2:c.963_986dup | NP_001272329.1:p.Pro329_Ala330insAlaGlnSerSerThrGluProPro | |
| NM_001285401.2:c.957_980dup | NP_001272330.1:p.Pro327_Ala328insAlaGlnSerSerThrGluProPro | |
| NM_001285402.1:c.912_935dup | NP_001272331.1:p.Pro312_Ala313insAlaGlnSerSerThrGluProPro | |
| NM_014336.4:c.1029_1052dup | NP_055151.3:p.Pro351_Ala352insAlaGlnSerSerThrGluProPro | |
| NM_001033054.3:c.840_863dup | NP_001028226.1:p.Pro288_Ala289insAlaGlnSerSerThrGluProPro | |
| NM_001033055.3:c.849_872dup | NP_001028227.1:p.Pro291_Ala292insAlaGlnSerSerThrGluProPro | |
| NM_001285399.3:c.993_1016dup | NP_001272328.1:p.Pro339_Ala340insAlaGlnSerSerThrGluProPro | |
| NM_001285400.3:c.963_986dup | NP_001272329.1:p.Pro329_Ala330insAlaGlnSerSerThrGluProPro | |
| NM_001285401.3:c.957_980dup | NP_001272330.1:p.Pro327_Ala328insAlaGlnSerSerThrGluProPro | |
| NM_001285402.2:c.912_935dup | NP_001272331.1:p.Pro312_Ala313insAlaGlnSerSerThrGluProPro | |
| NM_001285403.3:c.*1000_*1023dup | NP_001272332.1:n.*1000_*1023dup | |
| NM_014336.5:c.1029_1052dup MANE Select | NP_055151.3:p.Pro351_Ala352insAlaGlnSerSerThrGluProPro | |
| NM_001285403.4:c.*1000_*1023dup | NP_001272332.1:n.*1000_*1023dup |