MyVariant.info:
GRCh38
chr19:g.1221322dupC
GRCh37
chr19:g.1221321dupC
GRCh37
chr19:g.1221320_1221321insC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1221322dup , CM000681.2:g.1221322dup | GRCh38 |
| NC_000019.9:g.1221321dup , CM000681.1:g.1221321dup | GRCh37 |
| NC_000019.8:g.1172321dup | NCBI36 |
| NG_007460.2:g.36916dup , LRG_319:g.36916dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.844dup | ENSP00000490268.2:p.Leu282ProfsTer3 | |
| ENST00000585748.3:c.472dup | ENSP00000477641.2:p.Leu158ProfsTer3 | |
| ENST00000585851.2:c.670dup | ENSP00000467912.2:p.Leu224ProfsTer3 | |
| ENST00000326873.12:c.844dup MANE Select | ENSP00000324856.6:p.Leu282ProfsTer3 | |
| ENST00000652231.1:c.844dup | ENSP00000498804.1:p.Leu282ProfsTer3 | |
| ENST00000326873.11:c.844dup | ENSP00000324856.6:p.Leu282ProfsTer3 | |
| ENST00000586243.5:c.844dup | ENSP00000467240.2:p.Leu282ProfsTer3 | |
| ENST00000586358.5:n.742dup | ||
| ENST00000589152.5:n.934dup | ||
| ENST00000591133.2:n.815dup | ||
| NM_000455.4:c.844dup , LRG_319t1:c.844dup | NP_000446.1:p.Leu282ProfsTer3 | |
| XM_005259617.1:c.844dup | XP_005259674.1:p.Leu282ProfsTer3 | |
| XM_005259618.3:c.844dup | XP_005259675.1:p.Leu282ProfsTer3 | |
| XM_011528209.1:c.622dup | XP_011526511.1:p.Leu208ProfsTer3 | |
| XR_936204.1:n.1469dup | ||
| XM_005259617.3:c.844dup | XP_005259674.1:p.Leu282ProfsTer3 | |
| XM_011528209.2:c.622dup | XP_011526511.1:p.Leu208ProfsTer3 | |
| XR_001753738.2:n.1469dup | ||
| XR_001753739.1:n.1469dup | ||
| XR_001753740.2:n.1469dup | ||
| NM_000455.5:c.844dup MANE Select | NP_000446.1:p.Leu282ProfsTer3 |